Name: rs1042522
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1042522

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:7676154 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.382621 (101276/264690, TOPMED)
G=0.331835 (83136/250534, GnomAD_exome)
G=0.373457 (52281/139992, GnomAD) (+ 23 more)
G=0.340040 (41119/120924, ExAC)
G=0.285663 (30142/105516, ALFA)
G=0.34980 (9884/28256, 14KJPN)
G=0.35523 (5953/16758, 8.3KJPN)
G=0.4561 (2921/6404, 1000G_30x)
G=0.4571 (2289/5008, 1000G)
G=0.3004 (1346/4480, Estonian)
G=0.2504 (965/3854, ALSPAC)
G=0.2446 (907/3708, TWINSUK)
G=0.3446 (1009/2928, KOREAN)
G=0.3638 (665/1828, Korea1K)
G=0.419 (331/790, PRJEB37584)
G=0.404 (270/668, PharmGKB)
C=0.495 (304/614, Vietnamese)
G=0.330 (198/600, NorthernSweden)
G=0.283 (151/534, MGP)
G=0.267 (111/416, SGDP_PRJ)
G=0.439 (143/326, HapMap)
G=0.289 (88/304, FINRISK)
G=0.463 (100/216, Qatari)
G=0.11 (6/56, Ancient Sardinia)
G=0.18 (8/44, Siberian)
G=0.33 (13/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TP53 : Missense Variant
Publications: 390 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	105516	G=0.285663	C=0.714337, T=0.000000	0.094659	0.523333	0.382008	32
European	Sub	90388	G=0.26336	C=0.73664, T=0.00000	0.073439	0.54671	0.379851	11
African	Sub	2988	G=0.6854	C=0.3146, T=0.0000	0.523427	0.15261	0.323963	32
African Others	Sub	132	G=0.841	C=0.159, T=0.000	0.727273	0.045455	0.227273	1
African American	Sub	2856	G=0.6782	C=0.3218, T=0.0000	0.514006	0.157563	0.328431	32
Asian	Sub	3230	G=0.4152	C=0.5848, T=0.0000	0.185139	0.354799	0.460062	3
East Asian	Sub	2594	G=0.3774	C=0.6226, T=0.0000	0.153431	0.398612	0.447957	2
Other Asian	Sub	636	G=0.569	C=0.431, T=0.000	0.314465	0.176101	0.509434	0
Latin American 1	Sub	668	G=0.421	C=0.579, T=0.000	0.185629	0.344311	0.47006	0
Latin American 2	Sub	390	G=0.341	C=0.659, T=0.000	0.205128	0.523077	0.271795	17
South Asian	Sub	198	G=0.566	C=0.434, T=0.000	0.323232	0.191919	0.484848	0
Other	Sub	7654	G=0.3164	C=0.6836, T=0.0000	0.120199	0.487327	0.392475	18

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.382621	C=0.617379
gnomAD - Exomes	Global	Study-wide	250534	G=0.331835	C=0.668165
gnomAD - Exomes	European	Sub	135066	G=0.263493	C=0.736507
gnomAD - Exomes	Asian	Sub	48982	G=0.47362	C=0.52638
gnomAD - Exomes	American	Sub	34568	G=0.28547	C=0.71453
gnomAD - Exomes	African	Sub	15746	G=0.62009	C=0.37991
gnomAD - Exomes	Ashkenazi Jewish	Sub	10076	G=0.28513	C=0.71487
gnomAD - Exomes	Other	Sub	6096	G=0.3023	C=0.6977
gnomAD - Genomes	Global	Study-wide	139992	G=0.373457	C=0.626543
gnomAD - Genomes	European	Sub	75860	G=0.25788	C=0.74212
gnomAD - Genomes	African	Sub	41928	G=0.61057	C=0.38943
gnomAD - Genomes	American	Sub	13610	G=0.29743	C=0.70257
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.2804	C=0.7196
gnomAD - Genomes	East Asian	Sub	3126	G=0.4418	C=0.5582
gnomAD - Genomes	Other	Sub	2148	G=0.3529	C=0.6471
ExAC	Global	Study-wide	120924	G=0.340040	C=0.659960
ExAC	Europe	Sub	73302	G=0.26589	C=0.73411
ExAC	Asian	Sub	25126	G=0.47019	C=0.52981
ExAC	American	Sub	11562	G=0.28853	C=0.71147
ExAC	African	Sub	10030	G=0.61575	C=0.38425
ExAC	Other	Sub	904	G=0.335	C=0.665
Allele Frequency Aggregator	Total	Global	105516	G=0.285663	C=0.714337, T=0.000000
Allele Frequency Aggregator	European	Sub	90388	G=0.26336	C=0.73664, T=0.00000
Allele Frequency Aggregator	Other	Sub	7654	G=0.3164	C=0.6836, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3230	G=0.4152	C=0.5848, T=0.0000
Allele Frequency Aggregator	African	Sub	2988	G=0.6854	C=0.3146, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	668	G=0.421	C=0.579, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	390	G=0.341	C=0.659, T=0.000
Allele Frequency Aggregator	South Asian	Sub	198	G=0.566	C=0.434, T=0.000
14KJPN	JAPANESE	Study-wide	28256	G=0.34980	C=0.65020
8.3KJPN	JAPANESE	Study-wide	16758	G=0.35523	C=0.64477
1000Genomes_30x	Global	Study-wide	6404	G=0.4561	C=0.5439
1000Genomes_30x	African	Sub	1786	G=0.6674	C=0.3326
1000Genomes_30x	Europe	Sub	1266	G=0.2780	C=0.7220
1000Genomes_30x	South Asian	Sub	1202	G=0.4908	C=0.5092
1000Genomes_30x	East Asian	Sub	1170	G=0.4120	C=0.5880
1000Genomes_30x	American	Sub	980	G=0.311	C=0.689
1000Genomes	Global	Study-wide	5008	G=0.4571	C=0.5429
1000Genomes	African	Sub	1322	G=0.6687	C=0.3313
1000Genomes	East Asian	Sub	1008	G=0.4137	C=0.5863
1000Genomes	Europe	Sub	1006	G=0.2853	C=0.7147
1000Genomes	South Asian	Sub	978	G=0.492	C=0.508
1000Genomes	American	Sub	694	G=0.317	C=0.683
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3004	C=0.6996
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.2504	C=0.7496
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.2446	C=0.7554
KOREAN population from KRGDB	KOREAN	Study-wide	2928	G=0.3446	A=0.0000, C=0.6554, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1828	G=0.3638	C=0.6362
CNV burdens in cranial meningiomas	Global	Study-wide	790	G=0.419	C=0.581
CNV burdens in cranial meningiomas	CRM	Sub	790	G=0.419	C=0.581
PharmGKB Aggregated	Global	Study-wide	668	G=0.404	C=0.596
PharmGKB Aggregated	PA141824203	Sub	188	G=0.681	C=0.319
PharmGKB Aggregated	PA141823664	Sub	180	G=0.239	C=0.761
PharmGKB Aggregated	PA136109606	Sub	170	G=0.424	C=0.576
PharmGKB Aggregated	PA141823945	Sub	130	G=0.208	C=0.792
A Vietnamese Genetic Variation Database	Global	Study-wide	614	G=0.505	C=0.495
Northern Sweden	ACPOP	Study-wide	600	G=0.330	C=0.670
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.283	C=0.717
SGDP_PRJ	Global	Study-wide	416	G=0.267	C=0.733
HapMap	Global	Study-wide	326	G=0.439	C=0.561
HapMap	American	Sub	120	G=0.233	C=0.767
HapMap	African	Sub	118	G=0.669	C=0.331
HapMap	Asian	Sub	88	G=0.41	C=0.59
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.289	C=0.711
Qatari	Global	Study-wide	216	G=0.463	C=0.537
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	56	G=0.11	C=0.89
Siberian	Global	Study-wide	44	G=0.18	C=0.82
The Danish reference pan genome	Danish	Study-wide	40	G=0.33	C=0.68

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 17	NC_000017.11:g.7676154G>A
GRCh38.p14 chr 17	NC_000017.11:g.7676154G>C
GRCh38.p14 chr 17	NC_000017.11:g.7676154G>T
GRCh37.p13 chr 17	NC_000017.10:g.7579472G>A
GRCh37.p13 chr 17	NC_000017.10:g.7579472G>C
GRCh37.p13 chr 17	NC_000017.10:g.7579472G>T
TP53 RefSeqGene (LRG_321)	NG_017013.2:g.16397C>T
TP53 RefSeqGene (LRG_321)	NG_017013.2:g.16397C>G
TP53 RefSeqGene (LRG_321)	NG_017013.2:g.16397C>A

Gene: TP53, tumor protein p53 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TP53 transcript variant 5	NM_001126115.2:c.	N/A	Genic Upstream Transcript Variant
TP53 transcript variant 6	NM_001126116.2:c.	N/A	Genic Upstream Transcript Variant
TP53 transcript variant 7	NM_001126117.2:c.	N/A	Genic Upstream Transcript Variant
TP53 transcript variant 5	NM_001276697.3:c.	N/A	Genic Upstream Transcript Variant
TP53 transcript variant 6	NM_001276698.3:c.	N/A	Genic Upstream Transcript Variant
TP53 transcript variant 7	NM_001276699.3:c.	N/A	Genic Upstream Transcript Variant
TP53 transcript variant 1	NM_000546.6:c.215C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform a	NP_000537.3:p.Pro72Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 1	NM_000546.6:c.215C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform a	NP_000537.3:p.Pro72Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 1	NM_000546.6:c.215C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform a	NP_000537.3:p.Pro72His	P (Pro) > H (His)	Missense Variant
TP53 transcript variant 1	NM_001276760.3:c.98C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001263689.1:p.Pro33Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 1	NM_001276760.3:c.98C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001263689.1:p.Pro33Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 1	NM_001276760.3:c.98C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001263689.1:p.Pro33His	P (Pro) > H (His)	Missense Variant
TP53 transcript variant 2	NM_001276761.3:c.98C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001263690.1:p.Pro33Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 2	NM_001276761.3:c.98C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001263690.1:p.Pro33Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 2	NM_001276761.3:c.98C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001263690.1:p.Pro33His	P (Pro) > H (His)	Missense Variant
TP53 transcript variant 4	NM_001276695.3:c.98C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform h	NP_001263624.1:p.Pro33Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 4	NM_001276695.3:c.98C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform h	NP_001263624.1:p.Pro33Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 4	NM_001276695.3:c.98C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform h	NP_001263624.1:p.Pro33His	P (Pro) > H (His)	Missense Variant
TP53 transcript variant 3	NM_001276696.3:c.98C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform i	NP_001263625.1:p.Pro33Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 3	NM_001276696.3:c.98C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform i	NP_001263625.1:p.Pro33Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 3	NM_001276696.3:c.98C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform i	NP_001263625.1:p.Pro33His	P (Pro) > H (His)	Missense Variant
TP53 transcript variant 3	NM_001126114.3:c.215C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform b	NP_001119586.1:p.Pro72Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 3	NM_001126114.3:c.215C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform b	NP_001119586.1:p.Pro72Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 3	NM_001126114.3:c.215C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform b	NP_001119586.1:p.Pro72His	P (Pro) > H (His)	Missense Variant
TP53 transcript variant 4	NM_001126113.3:c.215C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform c	NP_001119585.1:p.Pro72Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 4	NM_001126113.3:c.215C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform c	NP_001119585.1:p.Pro72Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 4	NM_001126113.3:c.215C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform c	NP_001119585.1:p.Pro72His	P (Pro) > H (His)	Missense Variant
TP53 transcript variant 2	NM_001126112.3:c.215C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform a	NP_001119584.1:p.Pro72Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 2	NM_001126112.3:c.215C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform a	NP_001119584.1:p.Pro72Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 2	NM_001126112.3:c.215C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform a	NP_001119584.1:p.Pro72His	P (Pro) > H (His)	Missense Variant
TP53 transcript variant 8	NM_001126118.2:c.98C>T	P [CCC] > L [CTC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001119590.1:p.Pro33Leu	P (Pro) > L (Leu)	Missense Variant
TP53 transcript variant 8	NM_001126118.2:c.98C>G	P [CCC] > R [CGC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001119590.1:p.Pro33Arg	P (Pro) > R (Arg)	Missense Variant
TP53 transcript variant 8	NM_001126118.2:c.98C>A	P [CCC] > H [CAC]	Coding Sequence Variant
cellular tumor antigen p53 isoform g	NP_001119590.1:p.Pro33His	P (Pro) > H (His)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G= (allele ID: 176504 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000152112.4	not specified	Benign

Allele: A (allele ID: 846295 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001071888.3	Li-Fraumeni syndrome	Uncertain-Significance

Allele: C (allele ID: 27390 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000013144.7	CODON 72 POLYMORPHISM	Benign
RCV000034639.10	not provided	Benign
RCV000079202.19	not specified	Benign
RCV000132165.5	Hereditary cancer-predisposing syndrome	Benign
RCV000144668.8	Li-Fraumeni syndrome 1	Benign
RCV000300782.10	Li-Fraumeni syndrome	Benign
RCV001255631.2	Lip and oral cavity carcinoma	Pathogenic
RCV002225263.2	Hereditary breast ovarian cancer syndrome	Benign

Allele: T (allele ID: 185405 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000164487.6	Hereditary cancer-predisposing syndrome	Uncertain-Significance
RCV000227427.9	Li-Fraumeni syndrome	Uncertain-Significance
RCV001527080.2	Li-Fraumeni syndrome 1	Likely-Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A	C	T
GRCh38.p14 chr 17	NC_000017.11:g.7676154=	NC_000017.11:g.7676154G>A	NC_000017.11:g.7676154G>C	NC_000017.11:g.7676154G>T
GRCh37.p13 chr 17	NC_000017.10:g.7579472=	NC_000017.10:g.7579472G>A	NC_000017.10:g.7579472G>C	NC_000017.10:g.7579472G>T
TP53 RefSeqGene (LRG_321)	NG_017013.2:g.16397=	NG_017013.2:g.16397C>T	NG_017013.2:g.16397C>G	NG_017013.2:g.16397C>A
TP53 transcript variant 1	NM_000546.6:c.215=	NM_000546.6:c.215C>T	NM_000546.6:c.215C>G	NM_000546.6:c.215C>A
TP53 transcript variant 1	NM_000546.5:c.215=	NM_000546.5:c.215C>T	NM_000546.5:c.215C>G	NM_000546.5:c.215C>A
TP53 transcript variant 3	NM_001276696.3:c.98=	NM_001276696.3:c.98C>T	NM_001276696.3:c.98C>G	NM_001276696.3:c.98C>A
TP53 transcript variant 3	NM_001276696.2:c.98=	NM_001276696.2:c.98C>T	NM_001276696.2:c.98C>G	NM_001276696.2:c.98C>A
TP53 transcript variant 3	NM_001276696.1:c.98=	NM_001276696.1:c.98C>T	NM_001276696.1:c.98C>G	NM_001276696.1:c.98C>A
TP53 transcript variant 3	NM_001126114.3:c.215=	NM_001126114.3:c.215C>T	NM_001126114.3:c.215C>G	NM_001126114.3:c.215C>A
TP53 transcript variant 3	NM_001126114.2:c.215=	NM_001126114.2:c.215C>T	NM_001126114.2:c.215C>G	NM_001126114.2:c.215C>A
TP53 transcript variant 4	NM_001276695.3:c.98=	NM_001276695.3:c.98C>T	NM_001276695.3:c.98C>G	NM_001276695.3:c.98C>A
TP53 transcript variant 4	NM_001276695.2:c.98=	NM_001276695.2:c.98C>T	NM_001276695.2:c.98C>G	NM_001276695.2:c.98C>A
TP53 transcript variant 4	NM_001276695.1:c.98=	NM_001276695.1:c.98C>T	NM_001276695.1:c.98C>G	NM_001276695.1:c.98C>A
TP53 transcript variant 4	NM_001126113.3:c.215=	NM_001126113.3:c.215C>T	NM_001126113.3:c.215C>G	NM_001126113.3:c.215C>A
TP53 transcript variant 4	NM_001126113.2:c.215=	NM_001126113.2:c.215C>T	NM_001126113.2:c.215C>G	NM_001126113.2:c.215C>A
TP53 transcript variant 1	NM_001276760.3:c.98=	NM_001276760.3:c.98C>T	NM_001276760.3:c.98C>G	NM_001276760.3:c.98C>A
TP53 transcript variant 1	NM_001276760.2:c.98=	NM_001276760.2:c.98C>T	NM_001276760.2:c.98C>G	NM_001276760.2:c.98C>A
TP53 transcript variant 1	NM_001276760.1:c.98=	NM_001276760.1:c.98C>T	NM_001276760.1:c.98C>G	NM_001276760.1:c.98C>A
TP53 transcript variant 2	NM_001276761.3:c.98=	NM_001276761.3:c.98C>T	NM_001276761.3:c.98C>G	NM_001276761.3:c.98C>A
TP53 transcript variant 2	NM_001276761.2:c.98=	NM_001276761.2:c.98C>T	NM_001276761.2:c.98C>G	NM_001276761.2:c.98C>A
TP53 transcript variant 2	NM_001276761.1:c.98=	NM_001276761.1:c.98C>T	NM_001276761.1:c.98C>G	NM_001276761.1:c.98C>A
TP53 transcript variant 2	NM_001126112.3:c.215=	NM_001126112.3:c.215C>T	NM_001126112.3:c.215C>G	NM_001126112.3:c.215C>A
TP53 transcript variant 2	NM_001126112.2:c.215=	NM_001126112.2:c.215C>T	NM_001126112.2:c.215C>G	NM_001126112.2:c.215C>A
TP53 transcript variant 8	NM_001126118.2:c.98=	NM_001126118.2:c.98C>T	NM_001126118.2:c.98C>G	NM_001126118.2:c.98C>A
TP53 transcript variant 8	NM_001126118.1:c.98=	NM_001126118.1:c.98C>T	NM_001126118.1:c.98C>G	NM_001126118.1:c.98C>A
TP53 transcript variant 13	NM_001407271.1:c.98=	NM_001407271.1:c.98C>T	NM_001407271.1:c.98C>G	NM_001407271.1:c.98C>A
TP53 transcript variant 13	NM_001407270.1:c.215=	NM_001407270.1:c.215C>T	NM_001407270.1:c.215C>G	NM_001407270.1:c.215C>A
TP53 transcript variant 12	NM_001407269.1:c.98=	NM_001407269.1:c.98C>T	NM_001407269.1:c.98C>G	NM_001407269.1:c.98C>A
TP53 transcript variant 12	NM_001407268.1:c.215=	NM_001407268.1:c.215C>T	NM_001407268.1:c.215C>G	NM_001407268.1:c.215C>A
TP53 transcript variant 9	NM_001407263.1:c.98=	NM_001407263.1:c.98C>T	NM_001407263.1:c.98C>G	NM_001407263.1:c.98C>A
TP53 transcript variant 9	NM_001407262.1:c.215=	NM_001407262.1:c.215C>T	NM_001407262.1:c.215C>G	NM_001407262.1:c.215C>A
TP53 transcript variant 11	NM_001407267.1:c.98=	NM_001407267.1:c.98C>T	NM_001407267.1:c.98C>G	NM_001407267.1:c.98C>A
TP53 transcript variant 11	NM_001407266.1:c.215=	NM_001407266.1:c.215C>T	NM_001407266.1:c.215C>G	NM_001407266.1:c.215C>A
TP53 transcript variant 10	NM_001407265.1:c.98=	NM_001407265.1:c.98C>T	NM_001407265.1:c.98C>G	NM_001407265.1:c.98C>A
TP53 transcript variant 10	NM_001407264.1:c.215=	NM_001407264.1:c.215C>T	NM_001407264.1:c.215C>G	NM_001407264.1:c.215C>A
TP53 transcript variant 14	NR_176326.1:n.357=	NR_176326.1:n.357C>T	NR_176326.1:n.357C>G	NR_176326.1:n.357C>A
cellular tumor antigen p53 isoform a	NP_000537.3:p.Pro72=	NP_000537.3:p.Pro72Leu	NP_000537.3:p.Pro72Arg	NP_000537.3:p.Pro72His
cellular tumor antigen p53 isoform i	NP_001263625.1:p.Pro33=	NP_001263625.1:p.Pro33Leu	NP_001263625.1:p.Pro33Arg	NP_001263625.1:p.Pro33His
cellular tumor antigen p53 isoform b	NP_001119586.1:p.Pro72=	NP_001119586.1:p.Pro72Leu	NP_001119586.1:p.Pro72Arg	NP_001119586.1:p.Pro72His
cellular tumor antigen p53 isoform h	NP_001263624.1:p.Pro33=	NP_001263624.1:p.Pro33Leu	NP_001263624.1:p.Pro33Arg	NP_001263624.1:p.Pro33His
cellular tumor antigen p53 isoform c	NP_001119585.1:p.Pro72=	NP_001119585.1:p.Pro72Leu	NP_001119585.1:p.Pro72Arg	NP_001119585.1:p.Pro72His
cellular tumor antigen p53 isoform g	NP_001263689.1:p.Pro33=	NP_001263689.1:p.Pro33Leu	NP_001263689.1:p.Pro33Arg	NP_001263689.1:p.Pro33His
cellular tumor antigen p53 isoform g	NP_001263690.1:p.Pro33=	NP_001263690.1:p.Pro33Leu	NP_001263690.1:p.Pro33Arg	NP_001263690.1:p.Pro33His
cellular tumor antigen p53 isoform a	NP_001119584.1:p.Pro72=	NP_001119584.1:p.Pro72Leu	NP_001119584.1:p.Pro72Arg	NP_001119584.1:p.Pro72His
cellular tumor antigen p53 isoform g	NP_001119590.1:p.Pro33=	NP_001119590.1:p.Pro33Leu	NP_001119590.1:p.Pro33Arg	NP_001119590.1:p.Pro33His
TP53 transcript variant X1	XM_005256778.1:c.176-21=	XM_005256778.1:c.176-21C>T	XM_005256778.1:c.176-21C>G	XM_005256778.1:c.176-21C>A

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

176 SubSNP, 26 Frequency, 13 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1509829	Oct 05, 2000 (86)
2	HGBASE	ss2419871	Nov 14, 2000 (89)
3	SC_JCM	ss2463129	Nov 08, 2000 (89)
4	WICVAR	ss3176059	Aug 15, 2001 (102)
5	LEE	ss4390694	May 29, 2002 (106)
6	LEE	ss4403906	May 29, 2002 (106)
7	SNP500CANCER	ss5586947	Mar 31, 2003 (113)
8	WI_SSAHASNP	ss6876177	Feb 20, 2003 (111)
9	SC_SNP	ss14828256	Dec 05, 2003 (119)
10	CGAP-GAI	ss16228600	Feb 27, 2004 (120)
11	CSHL-HAPMAP	ss16760078	Feb 27, 2004 (120)
12	SSAHASNP	ss21424619	Apr 05, 2004 (121)
13	MGC_GENOME_DIFF	ss28497373	Sep 24, 2004 (126)
14	MGC_GENOME_DIFF	ss28512049	Sep 24, 2004 (126)
15	EGP_SNPS	ss32469466	Dec 02, 2004 (126)
16	ABI	ss40756430	Mar 10, 2006 (126)
17	CANCER-GENOME	ss48533626	Mar 10, 2006 (126)
18	EGP_SNPS	ss66856877	Dec 01, 2006 (127)
19	SI_EXO	ss71641730	May 18, 2007 (127)
20	ILLUMINA	ss74901666	Dec 06, 2007 (129)
21	CGM_KYOTO	ss76864481	Dec 06, 2007 (129)
22	HGSV	ss77368561	Dec 06, 2007 (129)
23	PHARMGKB_CREATE	ss84172835	Dec 15, 2007 (130)
24	PHARMGKB_CREATE	ss84172846	Dec 15, 2007 (130)
25	PHARMGKB_CREATE	ss84172869	Dec 15, 2007 (130)
26	PHARMGKB_CREATE	ss84173063	Dec 15, 2007 (130)
27	BCMHGSC_JDW	ss90524417	Mar 24, 2008 (129)
28	HUMANGENOME_JCVI	ss96578357	Feb 06, 2009 (130)
29	KFSHRC_RADBIO	ss105111344	Feb 06, 2009 (130)
30	1000GENOMES	ss113260832	Jan 25, 2009 (130)
31	ENSEMBL	ss132645907	Dec 01, 2009 (131)
32	ENSEMBL	ss136962647	Dec 01, 2009 (131)
33	SEATTLESEQ	ss159734466	Dec 01, 2009 (131)
34	ILLUMINA	ss159892412	Dec 01, 2009 (131)
35	COMPLETE_GENOMICS	ss167755102	Jul 04, 2010 (132)
36	COMPLETE_GENOMICS	ss169011665	Jul 04, 2010 (132)
37	ILLUMINA	ss170062384	Jul 04, 2010 (132)
38	COMPLETE_GENOMICS	ss171135553	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss208005019	Jul 04, 2010 (132)
40	1000GENOMES	ss210907281	Jul 14, 2010 (132)
41	1000GENOMES	ss227449846	Jul 14, 2010 (132)
42	1000GENOMES	ss237173876	Jul 15, 2010 (132)
43	1000GENOMES	ss243485869	Jul 15, 2010 (132)
44	ILLUMINA	ss244268863	Jul 04, 2010 (132)
45	BL	ss255474801	May 09, 2011 (134)
46	OMIM-CURATED-RECORDS	ss275513802	Nov 22, 2010 (133)
47	OMICIA	ss275516321	Aug 29, 2012 (137)
48	GMI	ss282682486	May 04, 2012 (137)
49	PJP	ss292010371	May 09, 2011 (134)
50	NHLBI-ESP	ss342443172	May 09, 2011 (134)
51	ILLUMINA	ss410886683	Sep 17, 2011 (135)
52	ILLUMINA	ss479263677	May 04, 2012 (137)
53	ILLUMINA	ss479266613	May 04, 2012 (137)
54	ILLUMINA	ss479635493	Sep 08, 2015 (146)
55	ILLUMINA	ss484432514	May 04, 2012 (137)
56	1000GENOMES	ss491115344	May 04, 2012 (137)
57	EXOME_CHIP	ss491516529	May 04, 2012 (137)
58	CLINSEQ_SNP	ss491729176	May 04, 2012 (137)
59	ILLUMINA	ss536603957	Sep 08, 2015 (146)
60	TISHKOFF	ss565152392	Apr 25, 2013 (138)
61	SSMP	ss660940297	Apr 25, 2013 (138)
62	ILLUMINA	ss778654660	Sep 08, 2015 (146)
63	ILLUMINA	ss782662723	Sep 08, 2015 (146)
64	ILLUMINA	ss783631622	Sep 08, 2015 (146)
65	ILLUMINA	ss831913250	Sep 08, 2015 (146)
66	ILLUMINA	ss834112538	Sep 08, 2015 (146)
67	EVA-GONL	ss992899216	Aug 21, 2014 (142)
68	JMKIDD_LAB	ss1067567548	Aug 21, 2014 (142)
69	1000GENOMES	ss1357813388	Aug 21, 2014 (142)
70	DDI	ss1427970283	Apr 01, 2015 (144)
71	EVA_GENOME_DK	ss1578079123	Apr 01, 2015 (144)
72	EVA_FINRISK	ss1584103859	Apr 01, 2015 (144)
73	EVA_UK10K_ALSPAC	ss1635240398	Apr 01, 2015 (144)
74	EVA_UK10K_TWINSUK	ss1678234431	Apr 01, 2015 (144)
75	EVA_EXAC	ss1692579901	Apr 01, 2015 (144)
76	EVA_MGP	ss1711447010	Apr 01, 2015 (144)
77	EVA_SVP	ss1713568240	Apr 01, 2015 (144)
78	CLINVAR	ss1751110392	May 21, 2015 (144)
79	ILLUMINA	ss1752241679	Sep 08, 2015 (146)
80	HAMMER_LAB	ss1808692611	Sep 08, 2015 (146)
81	WEILL_CORNELL_DGM	ss1936345976	Feb 12, 2016 (147)
82	ILLUMINA	ss1946427495	Feb 12, 2016 (147)
83	GENOMED	ss1966658571	Feb 12, 2016 (147)
84	JJLAB	ss2028961088	Sep 14, 2016 (149)
85	ILLUMINA	ss2094800802	Dec 20, 2016 (150)
86	ILLUMINA	ss2095071150	Dec 20, 2016 (150)
87	USC_VALOUEV	ss2157408828	Dec 20, 2016 (150)
88	HUMAN_LONGEVITY	ss2215319666	Dec 20, 2016 (150)
89	SYSTEMSBIOZJU	ss2628972669	Nov 08, 2017 (151)
90	ILLUMINA	ss2633372555	Nov 08, 2017 (151)
91	GRF	ss2701951520	Nov 08, 2017 (151)
92	GNOMAD	ss2742410547	Nov 08, 2017 (151)
93	GNOMAD	ss2749679886	Nov 08, 2017 (151)
94	GNOMAD	ss2947436379	Nov 08, 2017 (151)
95	AFFY	ss2985084752	Nov 08, 2017 (151)
96	AFFY	ss2985722821	Nov 08, 2017 (151)
97	SWEGEN	ss3015157839	Nov 08, 2017 (151)
98	ILLUMINA	ss3021752319	Nov 08, 2017 (151)
99	EVA_SAMSUNG_MC	ss3023070243	Nov 08, 2017 (151)
100	BIOINF_KMB_FNS_UNIBA	ss3028299707	Nov 08, 2017 (151)
101	CSHL	ss3351641711	Nov 08, 2017 (151)
102	ILLUMINA	ss3627620219	Oct 12, 2018 (152)
103	ILLUMINA	ss3631355146	Oct 12, 2018 (152)
104	ILLUMINA	ss3633134504	Oct 12, 2018 (152)
105	ILLUMINA	ss3633841584	Oct 12, 2018 (152)
106	ILLUMINA	ss3634663355	Oct 12, 2018 (152)
107	ILLUMINA	ss3636353773	Oct 12, 2018 (152)
108	ILLUMINA	ss3637281050	Oct 12, 2018 (152)
109	ILLUMINA	ss3638148196	Oct 12, 2018 (152)
110	ILLUMINA	ss3640370674	Oct 12, 2018 (152)
111	ILLUMINA	ss3643127588	Oct 12, 2018 (152)
112	OMUKHERJEE_ADBS	ss3646503356	Oct 12, 2018 (152)
113	URBANLAB	ss3650598904	Oct 12, 2018 (152)
114	ILLUMINA	ss3652165134	Oct 12, 2018 (152)
115	ILLUMINA	ss3653857049	Oct 12, 2018 (152)
116	EGCUT_WGS	ss3682123038	Jul 13, 2019 (153)
117	EVA_DECODE	ss3700039781	Jul 13, 2019 (153)
118	ILLUMINA	ss3725600063	Jul 13, 2019 (153)
119	ACPOP	ss3741852661	Jul 13, 2019 (153)
120	ILLUMINA	ss3744147021	Jul 13, 2019 (153)
121	ILLUMINA	ss3744963699	Jul 13, 2019 (153)
122	EVA	ss3754421771	Jul 13, 2019 (153)
123	ILLUMINA	ss3772461747	Jul 13, 2019 (153)
124	PACBIO	ss3788143256	Jul 13, 2019 (153)
125	PACBIO	ss3793112555	Jul 13, 2019 (153)
126	PACBIO	ss3797998185	Jul 13, 2019 (153)
127	KHV_HUMAN_GENOMES	ss3819691776	Jul 13, 2019 (153)
128	EVA	ss3825073938	Apr 27, 2020 (154)
129	EVA	ss3825531047	Apr 27, 2020 (154)
130	EVA	ss3825545821	Apr 27, 2020 (154)
131	EVA	ss3825891643	Apr 27, 2020 (154)
132	EVA	ss3834767326	Apr 27, 2020 (154)
133	EVA	ss3840992140	Apr 27, 2020 (154)
134	EVA	ss3846486536	Apr 27, 2020 (154)
135	SGDP_PRJ	ss3885289740	Apr 27, 2020 (154)
136	KRGDB	ss3934882622	Apr 27, 2020 (154)
137	KOGIC	ss3978354151	Apr 27, 2020 (154)
138	EVA	ss3983901684	Apr 27, 2021 (155)
139	FSA-LAB	ss3984106877	Apr 27, 2021 (155)
140	EVA	ss3984719666	Apr 27, 2021 (155)
141	EVA	ss3985779849	Apr 27, 2021 (155)
142	EVA	ss3986072729	Apr 27, 2021 (155)
143	EVA	ss3986711521	Apr 27, 2021 (155)
144	TOPMED	ss5028671105	Apr 27, 2021 (155)
145	TOMMO_GENOMICS	ss5221389427	Apr 27, 2021 (155)
146	CPQ_GEN_INCA	ss5236854173	Apr 27, 2021 (155)
147	CPQ_GEN_INCA	ss5236857891	Apr 27, 2021 (155)
148	EVA	ss5236939348	Apr 27, 2021 (155)
149	EVA	ss5237237459	Apr 27, 2021 (155)
150	EVA	ss5237571702	Apr 27, 2021 (155)
151	EVA	ss5237667945	Oct 17, 2022 (156)
152	1000G_HIGH_COVERAGE	ss5302344589	Oct 17, 2022 (156)
153	TRAN_CS_UWATERLOO	ss5314446554	Oct 17, 2022 (156)
154	EVA	ss5426241317	Oct 17, 2022 (156)
155	CSS-BFX	ss5442110347	Oct 17, 2022 (156)
156	HUGCELL_USP	ss5495527706	Oct 17, 2022 (156)
157	1000G_HIGH_COVERAGE	ss5605659524	Oct 17, 2022 (156)
158	EVA	ss5623893859	Oct 17, 2022 (156)
159	EVA	ss5623969825	Oct 17, 2022 (156)
160	EVA	ss5624068491	Oct 17, 2022 (156)
161	SANFORD_IMAGENETICS	ss5624391658	Oct 17, 2022 (156)
162	SANFORD_IMAGENETICS	ss5659676713	Oct 17, 2022 (156)
163	TOMMO_GENOMICS	ss5776954337	Oct 17, 2022 (156)
164	EVA	ss5799457840	Oct 17, 2022 (156)
165	EVA	ss5800205776	Oct 17, 2022 (156)
166	YY_MCH	ss5816315718	Oct 17, 2022 (156)
167	EVA	ss5833689547	Oct 17, 2022 (156)
168	EVA	ss5847470836	Oct 17, 2022 (156)
169	EVA	ss5847787900	Oct 17, 2022 (156)
170	EVA	ss5848440272	Oct 17, 2022 (156)
171	EVA	ss5851729129	Oct 17, 2022 (156)
172	EVA	ss5913134425	Oct 17, 2022 (156)
173	EVA	ss5951086951	Oct 17, 2022 (156)
174	EVA	ss5979499514	Oct 17, 2022 (156)
175	EVA	ss5980950903	Oct 17, 2022 (156)
176	EVA	ss5981298979	Oct 17, 2022 (156)
177	1000Genomes	NC_000017.10 - 7579472	Oct 12, 2018 (152)
178	1000Genomes_30x	NC_000017.11 - 7676154	Oct 17, 2022 (156)
179	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 7579472	Oct 12, 2018 (152)
180	Genetic variation in the Estonian population	NC_000017.10 - 7579472	Oct 12, 2018 (152)
181	ExAC	NC_000017.10 - 7579472	Oct 12, 2018 (152)
182	FINRISK	NC_000017.10 - 7579472	Apr 27, 2020 (154)
183	The Danish reference pan genome	NC_000017.10 - 7579472	Apr 27, 2020 (154)
184	gnomAD - Genomes	NC_000017.11 - 7676154	Apr 27, 2021 (155)
185	gnomAD - Exomes	NC_000017.10 - 7579472	Jul 13, 2019 (153)
186	HapMap	NC_000017.11 - 7676154	Apr 27, 2020 (154)
187	KOREAN population from KRGDB	NC_000017.10 - 7579472	Apr 27, 2020 (154)
188	Korean Genome Project	NC_000017.11 - 7676154	Apr 27, 2020 (154)
189	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 7579472	Apr 27, 2020 (154)
190	Northern Sweden	NC_000017.10 - 7579472	Jul 13, 2019 (153)
191	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 7579472	Apr 27, 2021 (155)
192	CNV burdens in cranial meningiomas	NC_000017.10 - 7579472	Apr 27, 2021 (155)
193	PharmGKB Aggregated	NC_000017.11 - 7676154	Apr 27, 2020 (154)
194	Qatari	NC_000017.10 - 7579472	Apr 27, 2020 (154)
195	SGDP_PRJ	NC_000017.10 - 7579472	Apr 27, 2020 (154)
196	Siberian	NC_000017.10 - 7579472	Apr 27, 2020 (154)
197	8.3KJPN	NC_000017.10 - 7579472	Apr 27, 2021 (155)
198	14KJPN	NC_000017.11 - 7676154	Oct 17, 2022 (156)
199	TopMed	NC_000017.11 - 7676154	Apr 27, 2021 (155)
200	UK 10K study - Twins	NC_000017.10 - 7579472	Oct 12, 2018 (152)
201	A Vietnamese Genetic Variation Database	NC_000017.10 - 7579472	Jul 13, 2019 (153)
202	ALFA	NC_000017.11 - 7676154	Apr 27, 2021 (155)
203	ClinVar	RCV000013144.7	Oct 17, 2022 (156)
204	ClinVar	RCV000034639.10	Oct 17, 2022 (156)
205	ClinVar	RCV000079202.19	Oct 17, 2022 (156)
206	ClinVar	RCV000132165.5	Oct 17, 2022 (156)
207	ClinVar	RCV000144668.8	Oct 17, 2022 (156)
208	ClinVar	RCV000152112.4	Oct 17, 2022 (156)
209	ClinVar	RCV000164487.6	Oct 17, 2022 (156)
210	ClinVar	RCV000227427.9	Oct 17, 2022 (156)
211	ClinVar	RCV000300782.10	Oct 17, 2022 (156)
212	ClinVar	RCV001071888.3	Oct 17, 2022 (156)
213	ClinVar	RCV001255631.2	Oct 17, 2022 (156)
214	ClinVar	RCV001527080.2	Oct 17, 2022 (156)
215	ClinVar	RCV002225263.2	Oct 17, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs2229076	Jan 04, 2002 (102)
rs3174747	Jul 03, 2002 (106)
rs4134781	Nov 14, 2002 (109)
rs17844988	Mar 10, 2006 (126)
rs17857747	Mar 10, 2006 (126)
rs17882155	Mar 10, 2006 (126)
rs60388830	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
42060016, ss3934882622	NC_000017.10:7579471:G:A	NC_000017.11:7676153:G:A	(self)
RCV001071888.3	NC_000017.11:7676153:G:A	NC_000017.11:7676153:G:A	(self)
ss77368561, ss90524417, ss113260832, ss159892412, ss167755102, ss169011665, ss171135553, ss208005019, ss210907281, ss244268863, ss255474801, ss282682486, ss292010371, ss479263677, ss491729176, ss1713568240, ss3643127588	NC_000017.9:7520196:G:C	NC_000017.11:7676153:G:C	(self)
71024053, 39391353, 27861286, 3007675, 100320, 4284492, 11708619, 42060016, 562770, 15137526, 1005776, 269207, 18387898, 37306720, 9925182, 79358734, 39391353, 8726164, ss227449846, ss237173876, ss243485869, ss342443172, ss479266613, ss479635493, ss484432514, ss491115344, ss491516529, ss536603957, ss565152392, ss660940297, ss778654660, ss782662723, ss783631622, ss831913250, ss834112538, ss992899216, ss1067567548, ss1357813388, ss1427970283, ss1578079123, ss1584103859, ss1635240398, ss1678234431, ss1692579901, ss1711447010, ss1752241679, ss1808692611, ss1936345976, ss1946427495, ss1966658571, ss2028961088, ss2094800802, ss2095071150, ss2157408828, ss2628972669, ss2633372555, ss2701951520, ss2742410547, ss2749679886, ss2947436379, ss2985084752, ss2985722821, ss3015157839, ss3021752319, ss3023070243, ss3351641711, ss3627620219, ss3631355146, ss3633134504, ss3633841584, ss3634663355, ss3636353773, ss3637281050, ss3638148196, ss3640370674, ss3646503356, ss3652165134, ss3653857049, ss3682123038, ss3741852661, ss3744147021, ss3744963699, ss3754421771, ss3772461747, ss3788143256, ss3793112555, ss3797998185, ss3825073938, ss3825531047, ss3825545821, ss3825891643, ss3834767326, ss3840992140, ss3885289740, ss3934882622, ss3983901684, ss3984106877, ss3984719666, ss3985779849, ss3986072729, ss3986711521, ss5221389427, ss5236854173, ss5236857891, ss5237571702, ss5426241317, ss5442110347, ss5623893859, ss5623969825, ss5624068491, ss5624391658, ss5659676713, ss5799457840, ss5800205776, ss5833689547, ss5847470836, ss5847787900, ss5848440272, ss5951086951, ss5979499514, ss5980950903, ss5981298979	NC_000017.10:7579471:G:C	NC_000017.11:7676153:G:C	(self)
RCV000013144.7, RCV000034639.10, RCV000079202.19, RCV000132165.5, RCV000144668.8, RCV000300782.10, RCV001255631.2, RCV002225263.2, 93185459, 500820283, 1453274, 34732152, 4685, 110791441, 244216767, 8057383630, ss275513802, ss275516321, ss2215319666, ss3028299707, ss3650598904, ss3700039781, ss3725600063, ss3819691776, ss3846486536, ss3978354151, ss5028671105, ss5236939348, ss5237237459, ss5237667945, ss5302344589, ss5314446554, ss5495527706, ss5605659524, ss5776954337, ss5816315718, ss5851729129, ss5913134425	NC_000017.11:7676153:G:C	NC_000017.11:7676153:G:C	(self)
ss14828256, ss16760078, ss21424619	NT_010718.14:6420477:G:C	NC_000017.11:7676153:G:C	(self)
ss1509829, ss2419871, ss2463129, ss3176059, ss4390694, ss4403906, ss5586947, ss6876177, ss16228600, ss28497373, ss28512049, ss32469466, ss40756430, ss48533626, ss66856877, ss71641730, ss74901666, ss76864481, ss84172835, ss84172846, ss84172869, ss84173063, ss96578357, ss105111344, ss132645907, ss136962647, ss159734466, ss170062384, ss410886683	NT_010718.16:7182845:G:C	NC_000017.11:7676153:G:C	(self)
42060016, ss3934882622	NC_000017.10:7579471:G:T	NC_000017.11:7676153:G:T	(self)
RCV000164487.6, RCV000227427.9, RCV001527080.2, 8057383630, ss1751110392	NC_000017.11:7676153:G:T	NC_000017.11:7676153:G:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

390 citations for rs1042522

PMID	Title	Author	Year	Journal
1975675	Codon 72 polymorphism of the TP53 gene.	Ara S et al.	1990	Nucleic acids research
1999338	Characterization of a frequent polymorphism in the coding sequence of the Tp53 gene in colonic cancer patients and a control population.	Olschwang S et al.	1991	Human genetics
8242752	WAF1, a potential mediator of p53 tumor suppression.	el-Deiry WS et al.	1993	Cell
9607760	Role of a p53 polymorphism in the development of human papillomavirus-associated cancer.	Storey A et al.	1998	Nature
9891044	Two polymorphic variants of wild-type p53 differ biochemically and biologically.	Thomas M et al.	1999	Molecular and cellular biology
10802655	A common polymorphism acts as an intragenic modifier of mutant p53 behaviour.	Marin MC et al.	2000	Nature genetics
11403041	Role of TP53 P72R polymorphism in human papillomavirus associated premalignant laryngeal neoplasm.	Aaltonen LM et al.	2001	Journal of medical genetics
12567188	The codon 72 polymorphic variants of p53 have markedly different apoptotic potential.	Dumont P et al.	2003	Nature genetics
15355915	p53 polymorphism and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population.	Jones JS et al.	2004	Clinical cancer research
15450681	Tumor suppressor gene TP53 is genetically associated with schizophrenia in the Chinese population.	Yang Y et al.	2004	Neuroscience letters
15564288	Polymorphisms in XPD and TP53 and mutation in human lung cancer.	Mechanic LE et al.	2005	Carcinogenesis
16199549	The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC).	Krüger S et al.	2005	Journal of medical genetics
16258005	Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.	Bougeard G et al.	2006	Journal of medical genetics
16287156	Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer.	Zhang X et al.	2006	Human mutation
16465622	Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.	Wu X et al.	2006	American journal of human genetics
16857995	Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.	Hill DA et al.	2006	Blood
16964264	iASPP preferentially binds p53 proline-rich region and modulates apoptotic function of codon 72-polymorphic p53.	Bergamaschi D et al.	2006	Nature genetics
17096406	Germ-line genetic variation of TP53 in osteosarcoma.	Savage SA et al.	2007	Pediatric blood & cancer
17301252	Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors.	Mechanic LE et al.	2007	Cancer epidemiology, biomarkers & prevention
17428325	Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.	Baynes C et al.	2007	Breast cancer research
17449902	Genetic variation in TP53 and risk of breast cancer in a population-based case control study.	Sprague BL et al.	2007	Carcinogenesis
17535973	Tumor suppressor p53 Arg72Pro polymorphism and longevity, cancer survival, and risk of cancer in the general population.	Ørsted DD et al.	2007	The Journal of experimental medicine
17537232	Association of TP53 codon 72 polymorphism and the outcome of adjuvant therapy in breast cancer patients.	Toyama T et al.	2007	Breast cancer research
17599946	Association of the TP53 codon 72 polymorphism with colorectal cancer in a Chinese population.	Zhu ZZ et al.	2007	Japanese journal of clinical oncology
17624591	Genetic variation of TP53, polycyclic aromatic hydrocarbon-related exposures, and breast cancer risk among women on Long Island, New York.	Gaudet MM et al.	2008	Breast cancer research and treatment
17638920	Interaction of P53 Arg72Pro and MDM2 T309G polymorphisms and their associations with risk of gastric cardia cancer.	Yang M et al.	2007	Carcinogenesis
18191955	Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.	Zhu Y et al.	2008	Mutation research
18298806	Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.	Rosenberger A et al.	2008	BMC cancer
18357466	Prognostic role of p53 codon 72 polymorphism in gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy.	Huang ZH et al.	2008	Journal of cancer research and clinical oncology
18433491	MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians.	Bittenbring J et al.	2008	BMC cancer
18547414	Genotyping panel for assessing response to cancer chemotherapy.	Dai Z et al.	2008	BMC medical genomics
18640487	Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation.	Israni AK et al.	2008	American journal of kidney diseases
18678618	Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.	Gaulton KJ et al.	2008	Diabetes
18715757	Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.	Shi J et al.	2008	Schizophrenia research
18798306	Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.	Pangilinan F et al.	2008	American journal of medical genetics. Part A
18805939	Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.	Tempfer CB et al.	2009	Human reproduction update
18820009	Possible difference in frequencies of genetic polymorphisms of estrogen receptor alpha, estrogen metabolism and P53 genes between estrogen receptor-positive and -negative breast cancers.	Hamaguchi M et al.	2008	Japanese journal of clinical oncology
18830263	Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.	Wang SS et al.	2009	Leukemia
18854777	Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.	Wu X et al.	2008	Pharmacogenetics and genomics
18978339	Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.	Lan Q et al.	2009	Carcinogenesis
18990748	International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.	Hung RJ et al.	2008	Cancer epidemiology, biomarkers & prevention
19052714	TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin.	Kim JG et al.	2009	Cancer chemotherapy and pharmacology
19193430	Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer.	Ashton KA et al.	2009	Gynecologic oncology
19224585	Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic.	Polakova V et al.	2009	Human mutation
19237173	Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy.	Hirata H et al.	2009	The Journal of urology
19276375	Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer.	Schildkraut JM et al.	2009	Cancer research
19286843	Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma.	Akulevich NM et al.	2009	Endocrine-related cancer
19302219	p53 Arg72Pro, MDM2 T309G and CCND1 G870A polymorphisms are not associated with susceptibility to esophageal adenocarcinoma.	Liu G et al.	2010	Diseases of the esophagus
19367277	Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.	Chang-Claude J et al.	2009	British journal of cancer
19423538	Common genetic variation in TP53 and risk of human papillomavirus persistence and progression to CIN3/cancer revisited.	Koshiol J et al.	2009	Cancer epidemiology, biomarkers & prevention
19426493	A case-control study on the combined effects of p53 and p73 polymorphisms on head and neck cancer risk in an Italian population.	Gallì P et al.	2009	BMC cancer
19442035	Pharmacogenomics of platinum-based chemotherapy in NSCLC.	Hildebrandt MA et al.	2009	Expert opinion on drug metabolism & toxicology
19470478	Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans.	Kang HJ et al.	2009	Proceedings of the National Academy of Sciences of the United States of America
19471604	Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population.	Mabuchi F et al.	2009	Molecular vision
19482343	Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.	Zhou X et al.	2009	Gynecologic oncology
19505915	Association of genetic polymorphisms, mRNA expression of p53 and p21 with chronic benzene poisoning in a chinese occupational population.	Sun P et al.	2009	Cancer epidemiology, biomarkers & prevention
19521721	Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms.	Hancox RJ et al.	2009	Human genetics
19542078	TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.	Marcel V et al.	2009	Journal of medical genetics
19625214	TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from 49 studies.	Klug SJ et al.	2009	The Lancet. Oncology
19657586	Association study between P53 and P73 gene polymorphisms and the sporadic late-onset form of Alzheimer's disease.	Scacchi R et al.	2009	Journal of neural transmission (Vienna, Austria
19707196	The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.	Sinilnikova OM et al.	2009	British journal of cancer
19750108	Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect.	Imboden M et al.	2009	Environmental health perspectives
19784392	Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism.	Daugherty CL et al.	2009	Molecular vision
19786980	Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients.	Khrunin AV et al.	2010	The pharmacogenomics journal
19822020	Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.	Zhu F et al.	2009	BMC gastroenterology
19826048	Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran.	Akbari MR et al.	2009	Cancer research
19834951	The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube.	Xian W et al.	2010	The Journal of pathology
19837266	TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility.	Do TN et al.	2009	Cancer genetics and cytogenetics
19911060	Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.	Doi N et al.	2009	PloS one
20003265	Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.	Maia AT et al.	2009	Breast cancer research
20100738	Prevalence and persistence of chromosomal damage and susceptible genotypes of metabolic and DNA repair genes in Chinese vinyl chloride-exposed workers.	Ji F et al.	2010	Carcinogenesis
20110284	Genotype and haplotype analysis of TP53 gene and the risk of pancreatic cancer: an association study in the Czech Republic.	Naccarati A et al.	2010	Carcinogenesis
20127253	The role of TP53 and p21 gene polymorphisms in breast cancer biology in a well specified and characterized German cohort.	Ebner F et al.	2010	Journal of cancer research and clinical oncology
20200430	TP53, MDM2, NQO1, and susceptibility to cervical cancer.	Hu X et al.	2010	Cancer epidemiology, biomarkers & prevention
20232390	Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia.	Shi JY et al.	2011	International journal of cancer
20357201	Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma.	Fan BJ et al.	2010	Investigative ophthalmology & visual science
20436704	TP53 mutations in Korean patients with non-small cell lung cancer.	Lee EB et al.	2010	Journal of Korean medical science
20452958	Single-nucleotide polymorphisms in the p53 signaling pathway.	Grochola LF et al.	2010	Cold Spring Harbor perspectives in biology
20455025	Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation.	Robertson LB et al.	2010	Familial cancer
20512840	Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers.	Litviakov NV et al.	2010	Molecular carcinogenesis
20520810	Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations.	Fang S et al.	2010	PloS one
20587610	Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.	Ucisik-Akkaya E et al.	2010	Molecular human reproduction
20593380	p53 Pro72Arg polymorphism and prostate cancer in men of African descent.	Ricks-Santi L et al.	2010	The Prostate
20638924	Distribution of TYMS, MTHFR, p53 and MDR1 gene polymorphisms in patients with breast cancer treated with neoadjuvant chemotherapy.	Henríquez-Hernández LA et al.	2010	Cancer epidemiology
20847277	Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification.	Baak-Pablo R et al.	2010	The Journal of molecular diagnostics
20855462	Single-nucleotide polymorphisms in p53 pathway and aggressiveness of prostate cancer in a Caucasian population.	Sun T et al.	2010	Clinical cancer research
20935061	A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck.	Huang YJ et al.	2010	Carcinogenesis
21029772	Genomic DNA extraction from whole blood stored from 15- to 30-years at -20 °C by rapid phenol-chloroform protocol: a useful tool for genetic epidemiology studies.	Di Pietro F et al.	2011	Molecular and cellular probes
21115003	TP53 polymorphisms in gliomas from Indian patients: Study of codon 72 genotype, rs1642785, rs1800370 and 16 base pair insertion in intron-3.	Jha P et al.	2011	Experimental and molecular pathology
21146886	Association between polymorphisms in RAPGEF1, TP53, NRF1 and type 2 diabetes in Chinese Han population.	Qu L et al.	2011	Diabetes research and clinical practice
21252575	TP53 codon 72 polymorphism is associated with coronary artery disease in Chilean subjects.	Caamaño J et al.	2011	Medical principles and practice
21283750	Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans.	Burgdorf KS et al.	2011	PloS one
21402718	Regulation of female reproduction by p53 and its family members.	Feng Z et al.	2011	FASEB journal
21437228	Using epidemiology and genomics to understand osteosarcoma etiology.	Savage SA et al.	2011	Sarcoma
21514219	Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.	Zhang B et al.	2011	The Lancet. Oncology
21533266	Data integration workflow for search of disease driving genes and genetic variants.	Karinen S et al.	2011	PloS one
21589938	Targeted assembly of short sequence reads.	Warren RL et al.	2011	PloS one
21619694	MDM2 SNP309, gene-gene interaction, and tumor susceptibility: an updated meta-analysis.	Wan Y et al.	2011	BMC cancer
21656578	Effects of MDM2 promoter polymorphisms and p53 codon 72 polymorphism on risk and age at onset of squamous cell carcinoma of the head and neck.	Yu H et al.	2011	Molecular carcinogenesis
21672450	Is there a biological plausability for p53 codon 72 polymorphism influence on cervical cancer development?	Sousa H et al.	2011	Acta medica portuguesa
21708280	Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.	Srivastava K et al.	2011	Mutation research
21741128	TP53 Arg72Pro polymorphism in Turkish patients with sporadic amyotrophic lateral sclerosis.	Ergul E et al.	2011	Neurobiology of aging
21779510	Regulation of Fertility by the p53 Family Members.	Hu W et al.	2011	Genes & cancer
21790896	Genetic and environmental predictors, endogenous hormones and growth factors, and risk of estrogen receptor-positive breast cancer in Japanese women.	Yoshimoto N et al.	2011	Cancer science
21810023	Coordination of TP53 abnormalities in breast cancer: data from analysis of TP53 polymorphisms, loss of heterozygosity, methylation, and mutations.	Denisov EV et al.	2011	Genetic testing and molecular biomarkers
21838531	Crosstalk between the FGFR2 and TP53 genes in breast cancer: data from an association study and epistatic interaction analysis.	Cherdyntseva NV et al.	2012	DNA and cell biology
21841506	Combined effect of genetic polymorphisms in P53, P73, and MDM2 on non-small cell lung cancer survival.	Liu L et al.	2011	Journal of thoracic oncology
21877955	Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in Saudi Arabia.	Al-Hadyan KS et al.	2012	Genetic testing and molecular biomarkers
21897271	Analysis of 4 single-nucleotide polymorphisms in relation to cervical dysplasia and cancer development using a high-throughput ligation-detection reaction procedure.	von Keyserling H et al.	2011	International journal of gynecological cancer
21931130	WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.	Blanco-Marchite C et al.	2011	Investigative ophthalmology & visual science
21946351	A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.	Stacey SN et al.	2011	Nature genetics
22076708	Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival.	Azad AK et al.	2012	Clinical cancer research
22178231	Polymorphisms of TP53 are markers of bladder cancer vulnerability and prognosis.	Lin HY et al.	2013	Urologic oncology
22188361	Pharmacogenomics of cisplatin-based chemotherapy in ovarian cancer patients of different ethnic origins.	Khrunin A et al.	2012	Pharmacogenomics
22189267	Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time.	Reiling E et al.	2012	European journal of human genetics
22194650	Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.	Rose R et al.	2011	Molecular vision
22215955	Polymorphisms associated with the risk of lung cancer in a healthy Mexican Mestizo population: Application of the additive model for cancer.	Pérez-Morales R et al.	2011	Genetics and molecular biology
22251423	NAMPT (visfatin) and AKT1 genetic variants associate with myocardial infarction.	Leander K et al.	2012	Clinica chimica acta; international journal of clinical chemistry
22294769	Mutations and polymorphisms in TP53 gene--an overview on the role in colorectal cancer.	Naccarati A et al.	2012	Mutagenesis
22300735	Genetic predisposition factors and nasopharyngeal carcinoma risk: a review of epidemiological association studies, 2000-2011: Rosetta Stone for NPC: genetics, viral infection, and other environmental factors.	Hildesheim A et al.	2012	Seminars in cancer biology
22336942	Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma.	Cotignola J et al.	2012	The Journal of investigative dermatology
22417303	Infrequent p53 gene mutation but UV gradient-like p53 protein positivity in keloids.	Heitzer E et al.	2012	Experimental dermatology
22655231	Sequence Variants and the Risk of Head and Neck Cancer: Pooled Analysis in the INHANCE Consortium.	Chuang SC et al.	2011	Frontiers in oncology
22703879	Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.	Johnston JJ et al.	2012	American journal of human genetics
22729912	Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis.	Cheng H et al.	2012	Molecular biology reports
22742565	Germline prognostic markers for urinary bladder cancer: obstacles and opportunities.	Chang DW et al.	2012	Urologic oncology
22744426	Polymorphisms in TP53 and MDM2 contribute to higher risk of colorectal cancer in Chinese population: a hospital-based, case-control study.	Zhang Y et al.	2012	Molecular biology reports
22773013	Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population.	Huang C et al.	2012	Asian journal of andrology
22829934	Assessment of TP53 mutations in benign and malignant salivary gland neoplasms.	Gomes CC et al.	2012	PloS one
22879966	Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study.	Verschuren JJ et al.	2012	PloS one
22892830	Role of p53 codon 72 polymorphism in chromosomal aberrations and mitotic index in patients with chronic hepatitis B.	Akbaş H et al.	2012	Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
22962577	Re-evaluation of the carcinogenic significance of hepatitis B virus integration in hepatocarcinogenesis.	Jiang S et al.	2012	PloS one
22992668	Pharmacogenomics knowledge for personalized medicine.	Whirl-Carrillo M et al.	2012	Clinical pharmacology and therapeutics
23029260	p53 codon 72 polymorphism and hematological cancer risk: an update meta-analysis.	Weng Y et al.	2012	PloS one
23056405	Predicting the functional effect of amino acid substitutions and indels.	Choi Y et al.	2012	PloS one
23072573	Multiplex allele-specific amplification from whole blood for detecting multiple polymorphisms simultaneously.	Zhu J et al.	2013	Genetic testing and molecular biomarkers
23124483	Correlation of telomere length shortening with TP53 somatic mutations, polymorphisms and allelic loss in breast tumors and esophageal cancer.	Hao XD et al.	2013	Oncology reports
23125046	TP53*P72 allele influences negatively female life expectancy in a population of central Italy: cross-sectional study and genetic-demographic approach analysis.	Di Pietro F et al.	2013	The journals of gerontology. Series A, Biological sciences and medical sciences
23127113	Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases.	Rinner B et al.	2012	BMC genomics
23168575	Candidate gene linkage approach to identify DNA variants that predispose to preterm birth.	Bream EN et al.	2013	Pediatric research
23192612	Association of common WRAP 53 variant with ovarian cancer risk in the Polish population.	Mędrek K et al.	2013	Molecular biology reports
23207172	The p53 codon 72 polymorphism (rs1042522) is associated with proliferative vitreoretinopathy: the Retina 4 Project.	Pastor-Idoate S et al.	2013	Ophthalmology
23210739	Association of MDM2 and p53 polymorphisms with the advancement of cervical carcinoma.	Singhal P et al.	2013	DNA and cell biology
23267696	Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study.	Guo Y et al.	2012	BMC medical genomics
23311506	The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study.	Thun GA et al.	2013	The Journal of asthma
23360829	Association between polymorphisms in the genes for tumor suppressor protein p53 and its regulator NAD(P)H: quinone oxidoreductase 1 (NQO1) and schizophrenia in a Syrian study cohort.	Lajin B et al.	2013	Archives of medical research
23423487	Effect of TP53 codon 72 and MDM2 SNP309 polymorphisms on survival of gastric cancer among patients who receiving 5-fluorouracil-based postoperative adjuvant chemotherapy.	Wang S et al.	2013	Cancer chemotherapy and pharmacology
23552518	An identical, complex TP53 mutation arising independently in two unrelated families with diverse cancer profiles: the complexity of interpreting cancer risk in carriers.	Pinto EM et al.	2012	Oncogenesis
23624782	Association of MDM2 SNP309 and TP53 Arg72Pro polymorphisms with risk of endometrial cancer.	Yoneda T et al.	2013	Oncology reports
23632240	Promoter polymorphisms of pri-miR-34b/c are associated with hepatocellular carcinoma.	Son MS et al.	2013	Gene
23653000	CXCL12 and TP53 genetic polymorphisms as markers of susceptibility in a Brazilian children population with acute lymphoblastic leukemia (ALL).	de Lourdes Perim A et al.	2013	Molecular biology reports
23697595	SNPs in genes implicated in radiation response are associated with radiotoxicity and evoke roles as predictive and prognostic biomarkers.	Alsbeih G et al.	2013	Radiation oncology (London, England)
23729685	Genotype misclassification in genetic association studies of the rs1042522 TP53 (Arg72Pro) polymorphism: a systematic review of studies of breast, lung, colorectal, ovarian, and endometrial cancer.	Dahabreh IJ et al.	2013	American journal of epidemiology
23744327	[Association of P53 gene polymorphisms with susceptibility to endometriosis].	Huang Y et al.	2013	Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
23757202	Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.	Bean LJ et al.	2013	Human mutation
23820649	Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.	Cooper DN et al.	2013	Human genetics
23837945	Association of p53 and MDM2 polymorphisms with risk of human papillomavirus (HPV)-related esophageal squamous cell carcinoma (ESCC).	Yang J et al.	2013	Cancer epidemiology
23887774	ACMG clinical laboratory standards for next-generation sequencing.	Rehm HL et al.	2013	Genetics in medicine
23906684	Genetic associations with coronary heart disease: meta-analyses of 12 candidate genetic variants.	Ye H et al.	2013	Gene
23946381	Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.	Ma X et al.	2014	Gut
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
24084248	The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes.	Molina E et al.	2013	Mutation research. Genetic toxicology and environmental mutagenesis
24115240	TP53 single nucleotide polymorphism rs1042522 in salivary gland neoplasms.	Gomes CC et al.	2014	Head & neck
24218030	Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach.	O'Brien KM et al.	2014	American journal of epidemiology
24266512	Association between TP53 gene Arg72Pro polymorphism and idiopathic infertility in southeast Chinese Han males.	Jin Q et al.	2013	Systems biology in reproductive medicine
24369748	TP53 genetic polymorphisms, interactions with lifestyle factors and lung cancer risk: a case control study in a Chinese population.	Li Y et al.	2013	BMC cancer
24370206	Risk genes in head and neck cancer: a systematic review and meta-analysis of last 5 years.	Brunotto M et al.	2014	Oral oncology
24435975	p53 signaling pathway polymorphisms associated to recurrent pregnancy loss.	Fraga LR et al.	2014	Molecular biology reports
24491308	Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.	Cartwright R et al.	2014	European urology
24534481	Association between TLR2, MTR, MTRR, XPC, TP73, TP53 genetic polymorphisms and gastric cancer: a meta-analysis.	Cheng C et al.	2014	Clinics and research in hepatology and gastroenterology
24586820	Evidence for an epistatic effect between TP53 R72P and MDM2 T309G SNPs in HIV infection: a cross-sectional study in women from South Brazil.	Hartwig FP et al.	2014	PloS one
24632578	Combined effects of genetic variants of the PTEN, AKT1, MDM2 and p53 genes on the risk of nasopharyngeal carcinoma.	Zhang X et al.	2014	PloS one
24654968	Germline genetics of the p53 pathway affect longevity in a gender specific manner.	Groß S et al.	2014	Current aging science
24710610	No association of the p53 codon 72 polymorphism with malaria in Ghanaian primiparae and Rwandan children.	Gai PP et al.	2014	The American journal of tropical medicine and hygiene
24728327	Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.	Bodian DL et al.	2014	PloS one
24818791	Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis.	Pineda S et al.	2014	PloS one
24820515	p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of esophageal cancer in a Chinese population.	Zheng L et al.	2014	PloS one
24863946	No evidence of correlation between p53 codon 72 G > C gene polymorphism and cancer risk in Indian population: a meta-analysis.	Mandal RK et al.	2014	Tumour biology
24944790	Screening for 392 polymorphisms in 141 pharmacogenes.	Kim JY et al.	2014	Biomedical reports
24944814	Association between p16(CDKN2A) C540G polymorphism and tumor behavior in prolactinoma: A single-center study.	Cander S et al.	2014	Biomedical reports
25060098	Association between a single nucleotide polymorphism in the TP53 region and risk of ovarian cancer.	Xi Y et al.	2014	Cell biochemistry and biophysics
25105660	Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.	Chitrala KN et al.	2014	PloS one
25203442	The functional TP53 rs1042522 and MDM4 rs4245739 genetic variants contribute to Non-Hodgkin lymphoma risk.	Fan C et al.	2014	PloS one
25214541	A systematic review and meta-analysis of somatic and germline DNA sequence biomarkers of esophageal cancer survival, therapy response and stage.	Findlay JM et al.	2015	Annals of oncology
25316267	TP53 and MDM2 polymorphisms and the risk of endometrial cancer in postmenopausal women.	Zając A et al.	2014	Medical oncology (Northwood, London, England)
25412941	Association between polymorphisms in tumor suppressor genes and oncogenes and risk of hepatocellular carcinoma: a case-control study in an HCC epidemic area within the Han Chinese population.	Su C et al.	2014	Medical oncology (Northwood, London, England)
25479941	Genetic association of single nucleotide polymorphisms in P53 pathway with gastric cancer risk in a Chinese Han population.	Wu GC et al.	2015	Medical oncology (Northwood, London, England)
25514803	Targeted next-generation sequencing of cancer genes in advanced stage malignant pleural mesothelioma: a retrospective study.	Lo Iacono M et al.	2015	Journal of thoracic oncology
25591549	Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy.	Tecza K et al.	2015	Journal of experimental & clinical cancer research
25719551	The role of genotypes that modify the toxicity of chemical mutagens in the risk for myeloproliferative neoplasms.	Gross-Davis CA et al.	2015	International journal of environmental research and public health
25734904	Impact of TP53 codon 72 and MDM2 SNP 309 polymorphisms in pancreatic ductal adenocarcinoma.	Hori Y et al.	2015	PloS one
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
25747431	No association of TP53 codon 72 SNP with male infertility: a study in a Chinese population and a meta-analysis.	Chan Y et al.	2015	Systems biology in reproductive medicine
25819169	Meta-analysis of association between the TP53 Arg72Pro polymorphism and risk of endometriosis based on case-control studies.	Yan Y et al.	2015	European journal of obstetrics, gynecology, and reproductive biology
25881102	Genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancer.	Lambrechts S et al.	2015	BMC pharmacology & toxicology
25889195	TP53 Arg72Pro polymorphism (rs1042522) and risk of endometriosis among Asian and Caucasian populations.	Li J et al.	2015	European journal of obstetrics, gynecology, and reproductive biology
26025918	MDM2 and P53 polymorphisms contribute together to the risk and survival of prostate cancer.	Xue L et al.	2016	Oncotarget
26099726	Fuzzy clustering demonstrates that codon 72 SNP rs1042522 of TP53 gene associated with HNSCC but not with prognoses.	Pinheiro UB et al.	2015	Tumour biology
26130668	Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer.	Joo J et al.	2016	Cancer research and treatment
26226484	Genotype and Haplotype Analyses of TP53 Gene in Breast Cancer Patients: Association with Risk and Clinical Outcomes.	Vymetalkova V et al.	2015	PloS one
26289323	Association of p53 rs1042522, MDM2 rs2279744, and p21 rs1801270 polymorphisms with retinoblastoma risk and invasion in a Chinese population.	Chen R et al.	2015	Scientific reports
26305668	The Relationship between Vascular Endothelial Growth Factor 1154G/A Polymorphism and Recurrent Implantation Failure.	Vagnini LD et al.	2015	Medical principles and practice
26382048	Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes.	Jacovas VC et al.	2015	PloS one
26451011	Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas.	Montazeri Z et al.	2016	International journal of epidemiology
26666818	Breast cancer risk in relation to TP53 codon 72 and CDH1 gene polymorphisms in the Bangladeshi women.	Shabnaz S et al.	2016	Tumour biology
26683024	Comparison of Genetic Variants in Cancer-Related Genes between Chinese Hui and Han Populations.	Tian C et al.	2015	PloS one
26690118	An Updated Review on the Genetics of Primary Open Angle Glaucoma.	Abu-Amero K et al.	2015	International journal of molecular sciences
26696550	TP53 Codon 72 Polymorphism Predicts Efficacy of Paclitaxel Plus Capecitabine Chemotherapy in Advanced Gastric Cancer Patients.	Zha Y et al.	2016	Archives of medical research
26867771	The MDM4 SNP34091 (rs4245739) C-allele is associated with increased risk of ovarian-but not endometrial cancer.	Gansmo LB et al.	2016	Tumour biology
26870349	Impact of single-nucleotide polymorphisms on radiation pneumonitis in cancer patients.	Guo CX et al.	2016	Molecular and clinical oncology
26873362	Gene Polymorphism Association with Type 2 Diabetes and Related Gene-Gene and Gene-Environment Interactions in a Uyghur Population.	Xiao S et al.	2016	Medical science monitor
26887047	Retrospective study testing next generation sequencing of selected cancer-associated genes in resected prostate cancer.	Lo Iacono M et al.	2016	Oncotarget
26900293	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.	Chang YC et al.	2016	World journal of gastroenterology
26902998	The role of WWOX polymorphisms on COPD susceptibility and pulmonary function traits in Chinese: a case-control study and family-based analysis.	Xie C et al.	2016	Scientific reports
27223485	Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.	Palmero EI et al.	2016	Genetics and molecular biology
27246533	The study of the relation of DNA repair pathway genes SNPs and the sensitivity to radiotherapy and chemotherapy of NSCLC.	Wang C et al.	2016	Scientific reports
27248495	Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population.	López Valverde G et al.	2016	PloS one
27277665	Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population.	Zholdybayeva EV et al.	2016	Human genomics
27282582	TP53 codon 72 polymorphism predicts chronic myeloid leukemia susceptibility and treatment outcome.	Weich N et al.	2016	Blood cells, molecules & diseases
27376129	Independent Replication of Published Germline Polymorphisms Associated with Urinary Bladder Cancer Prognosis and Treatment Response.	Grotenhuis AJ et al.	2016	Bladder cancer (Amsterdam, Netherlands)
27414035	Genetic Variants in the p14ARF/MDM2/TP53 Pathway Are Associated with the Prognosis of Esophageal Squamous Cell Carcinoma Patients Treated with Radical Resection.	Li J et al.	2016	PloS one
27415837	Cervical Cancer Genetic Susceptibility: A Systematic Review and Meta-Analyses of Recent Evidence.	Martínez-Nava GA et al.	2016	PloS one
27436625	The Arg72 variant of the p53 functional polymorphism (rs1042522) is associated with coronary artery disease in young South Africans of Indian ancestry.	Khan S et al.	2016	Gene
27506496	A Functional Polymorphism (rs937283) in the MDM2 Promoter Region is Associated with Poor Prognosis of Retinoblastoma in Chinese Han Population.	Jiao Y et al.	2016	Scientific reports
27574448	Polymorphism of CYP3A4 and ABCB1 genes increase the risk of neuropathy in breast cancer patients treated with paclitaxel and docetaxel.	Kus T et al.	2016	OncoTargets and therapy
27588484	Gene-gene interactions in gastrointestinal cancer susceptibility.	Kim J et al.	2016	Oncotarget
27614750	Association of p53 codon 72 polymorphism and survival of North Indian lung cancer patients treated with platinum-based chemotherapy.	Kumari A et al.	2016	Molecular biology reports
27618021	Pharmacogenomics in Pediatric Oncology: Review of Gene-Drug Associations for Clinical Use.	Mlakar V et al.	2016	International journal of molecular sciences
27619989	Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases.	Hamadou WS et al.	2017	Familial cancer
27658049	Molecular Genetic Characterization of Individual Cancer Cells Isolated via Single-Cell Printing.	Riba J et al.	2016	PloS one
27686769	[Association and interaction of heat shock proteins B1 gene and tumor-suppressor protein p53 gene with chromosome damage levels among coke oven workers].	Li XL et al.	2016	Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]
27698805	Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma.	Cheng Z et al.	2016	Oncology letters
27716216	The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.	Gerhard GS et al.	2016	BMC medical genomics
27852141	A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers.	Salemi M et al.	2017	The journal of maternal-fetal & neonatal medicine
27871254	Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53.	Duffy DL et al.	2016	BMC nephrology
27900359	Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs.	Kukita Y et al.	2016	Cold Spring Harbor molecular case studies
28106707	ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION.	Quiroz-Casian N et al.	2018	Retina (Philadelphia, Pa.)
28125715	Correction: Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population.	López Valverde G et al.	2017	PloS one
28179045	Analysis of Polymorphism rs1042522 in TP53 Gene in the Mothers of Twins and of Singletons: A Population-Based Study in Rio Grande do Sul, Brazil.	Mardini AC et al.	2017	Twin research and human genetics
28184992	Association study between the TP53 Rs1042522G/C polymorphism and susceptibility to systemic lupus erythematosus in a Chinese Han population.	Yang J et al.	2017	Rheumatology international
28210099	Study of polymorphisms in the TP53 and RB1 genes in children with retinoblastoma in northern Mexico.	Anaya-Pava EJ et al.	2017	Molecular vision
28214592	Role of a p53 polymorphism in the development of nonfunctional pituitary adenomas.	Yagnik G et al.	2017	Molecular and cellular endocrinology
28260929	Association between TP53 gene Arg72Pro polymorphism and Wilms' tumor risk in a Chinese population.	Fu W et al.	2017	OncoTargets and therapy
28275206	The TP53 gene rs1042522 C>G polymorphism and neuroblastoma risk in Chinese children.	He J et al.	2017	Aging
28336930	TP53 Arg72Pro, mortality after cancer, and all-cause mortality in 105,200 individuals.	Kodal JB et al.	2017	Scientific reports
28348449	Combined Genetic Biomarkers Confer Susceptibility to Risk of Urothelial Bladder Carcinoma in a Saudi Population.	Elhawary NA et al.	2017	Disease markers
28351583	Candidate apoptotic and DNA repair gene approach confirms involvement of ERCC1, ERCC5, TP53 and MDM2 in radiation-induced toxicity in head and neck cancer.	Borchiellini D et al.	2017	Oral oncology
28364582	Clinical relevance of TP53 polymorphic genetic variations in chronic lymphocytic leukemia.	Bilous N et al.	2017	Leukemia research
28373458	Low Variability and Stable Frequency of Common Haplotypes of the TP53 Gene Region in Colorectal Cancer Patients in a Slovak Population.	Škereňová M et al.	2017	Anticancer research
28415781	Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype.	Carrera-Lasfuentes P et al.	2017	Oncotarget
28456797	Identification of Two Additional Susceptibility Loci for Inflammatory Bowel Disease in a Chinese Population.	Lan X et al.	2017	Cellular physiology and biochemistry
28545270	[Correlation between mutation of p53 gene 2-4 exons from peripheral blood and HPV16 positive cervical cancer susceptibility and clinical significance].	Yin CM et al.	2017	Zhonghua fu chan ke za zhi
28652652	Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.	Sharma A et al.	2017	World journal of gastroenterology
28827732	Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.	Wang J et al.	2017	Scientific reports
28866361	Targeted next-generation sequencing of glandular odontogenic cyst: a preliminary study.	Siqueira EC et al.	2017	Oral surgery, oral medicine, oral pathology and oral radiology
28881764	Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology.	Wu MY et al.	2017	Oncotarget
29063062	Association between the rs1042522 polymorphism in TP53 and prostate cancer risk: An updated meta-analysis.	Fan S et al.	2017	Chronic diseases and translational medicine
29126407	TP53 Arg72 as a favorable prognostic factor for Chinese diffuse large B-cell lymphoma patients treated with CHOP.	Liu Y et al.	2017	BMC cancer
29167767	TP53 Gene Polymorphisms and Occupational Skin Cancer Risks for Workers of Glass Fiber Manufacture.	Mukhammadiyeva GF et al.	2017	Iranian journal of public health
29193749	Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.	Borobia AM et al.	2018	Clinical and translational science
29239811	The Wnt/β-catenin pathway is deregulated in cemento-ossifying fibromas.	Pereira TDSF et al.	2018	Oral surgery, oral medicine, oral pathology and oral radiology
29286614	TP53 Gene Pro72Arg (rs1042522) Single Nucleotide Polymorphism as Not a Risk Factor for Colorectal Cancer in the Iranian Azari Population.	Asadi M et al.	2017	Asian Pacific journal of cancer prevention
29356585	Correlation Between Single-Nucleotide Polymorphisms Within miR-30a and Related Target Genes and Risk or Prognosis of Nephrotic Syndrome.	Yang R et al.	2018	DNA and cell biology
29390357	Association between rs11200014, rs2981579, and rs1219648 polymorphism and breast cancer susceptibility: A meta-analysis.	Zhang Y et al.	2017	Medicine
29458332	Identification of genetic variants for clinical management of familial colorectal tumors.	Dominguez-Valentin M et al.	2018	BMC medical genetics
29482350	Tumor Protein p53 (TP53) Gene and Left Main Coronary Artery Disease.	Kolovou V et al.	2018	Angiology
29484706	Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.	Guacci A et al.	2018	Journal of clinical laboratory analysis
29658252	[Single nucleotide polymorphism of the TP53 gene is not correlated with male infertility].	Ni MX et al.	2017	Zhonghua nan ke xue = National journal of andrology
29731921	TP53 Arg72Pro polymorphism is associated with increased overall survival but not response to therapy in Portuguese/Caucasian patients with advanced cervical cancer.	Coelho A et al.	2018	Oncology letters
29860059	Influence of tumour suppressor gene (TP53, BRCA1 and BRCA2) polymorphisms on polycystic ovary syndrome in South Indian women.	Siddamalla S et al.	2018	European journal of obstetrics, gynecology, and reproductive biology
29949804	The 72Pro Variant of the Tumor Protein 53 Is Associated with an Increased Breast Cancer Risk in the Moroccan Population.	Ayoubi SE et al.	2018	Pathobiology
29957069	Associations Between TP53 and MDM2 Polymorphisms and the Follicle-Stimulating Hormone/Luteinizing Hormone Ratio in Infertile Women.	Chan Y et al.	2018	Genetic testing and molecular biomarkers
30126398	Effect of TP53 rs1042522 on the susceptibility of patients to oral squamous cell carcinoma and oral leukoplakia: a meta-analysis.	Sun Z et al.	2018	BMC oral health
30139066	Meta-Analysis of Polymorphic Variants Conferring Genetic Risk to Cervical Cancer in Indian Women Supports CYP1A1 as an Important Associated Locus.	Sengupta D et al.	2018	Asian Pacific journal of cancer prevention
30235774	Systematic meta-analysis of genetic variants associated with osteosarcoma susceptibility.	Wang X et al.	2018	Medicine
30288482	The frequency of TP53 R72P and MDM2 309T>G polymorphisms in Iranian infertile men with spermatogenetic failure: A case-control study.	Ebrahim Abadi Z et al.	2018	International journal of reproductive biomedicine
30337837	Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis.	Wen J et al.	2018	Cancer cell international
30370260	Polymorphism Located in the Upstream Region of the RPS19 Gene (rs2305809) Is Associated With Cervical Cancer: A Case-control Study.	da Rocha Boeira T et al.	2018	Journal of cancer prevention
30409984	Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.	John SE et al.	2018	Scientific reports
30519324	P53 Codon 72 Polymorphism and Risk for Squamous Cell Carcinoma of the Penis: A Caucasian Case-Control Study.	Stoehr R et al.	2018	Journal of Cancer
30551681	Association between Polymorphisms in Inflammatory Response-Related Genes and the Susceptibility, Progression and Prognosis of the Diffuse Histological Subtype of Gastric Cancer.	Furuya TK et al.	2018	Genes
30607176	Association of rs1042522 SNP with Clinicopathologic Factors of Breast Cancer Patients in the Markazi Province of Iran.	Anoushirvani AA et al.	2018	Open access Macedonian journal of medical sciences
30610160	TP53 rs1042522 C>G polymorphism and Wilms tumor susceptibility in Chinese children: a four-center case-control study.	Liu P et al.	2019	Bioscience reports
30616520	Interaction between TP53 and XRCC1 increases susceptibility to cervical cancer development: a case control study.	Liu GC et al.	2019	BMC cancer
30686012	TP53 rs1042522 and rs8064946 variants in myocardial infarction.	Hakobjanyan A et al.	2018	Bratislavske lekarske listy
30695351	[ASSOCIATION OF CERTAIN SINGLE NUCLEOTIDE POLYMORPHISM GENES OF APOPTOSIS SYSTEM WITH A RISK OF DEVELOPMENT OF COLORECTAL CANCER IN RUSSIAN POPULATION].	Alyeva MK et al.	2016	Zhurnal mikrobiologii, epidemiologii i immunobiologii
30719141	TP53 gene rs1042522 allele G decreases neuroblastoma risk: a two-centre case-control study.	Zhang J et al.	2019	Journal of Cancer
30781715	Genetic Epidemiology of Breast Cancer in Latin America.	Zavala VA et al.	2019	Genes
30793520	Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies.	Tian J et al.	2019	Cancer medicine
30796655	Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.	Aceto GM et al.	2019	Breast cancer research and treatment
30799775	Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population.	Chen FY et al.	2018	Technology in cancer research & treatment
30807515	SINGLE NUCLEOTIDE POLYMORPHISMS IN RETINAL DETACHMENT PATIENTS WITH AND WITHOUT PROLIFERATIVE VITREORETINOPATHY.	Lumi X et al.	2020	Retina (Philadelphia, Pa.)
30833364	Association between TP53 rs1042522 gene polymorphism and the risk of malignant bone tumors: a meta-analysis.	Huang X et al.	2019	Bioscience reports
30841568	Intake of Red and Processed Meat, Use of Non-Steroid Anti-Inflammatory Drugs, Genetic Variants and Risk of Colorectal Cancer: A Prospective Study of the Danish "Diet, Cancer and Health" Cohort.	Andersen V et al.	2019	International journal of molecular sciences
30867801	Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico.	Uscanga-Perales GI et al.	2019	Oncology letters
30956778	Specific allelic variants of SNPs in the MDM2 and MDMX genes are associated with earlier tumor onset and progression in Caucasian breast cancer patients.	Bauer M et al.	2019	Oncotarget
30959967	Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population.	Fernández-Mateos J et al.	2019	Cancers
30972159	Mechanistic insights into environmental and genetic risk factors for systemic lupus erythematosus.	Pan Q et al.	2019	American journal of translational research
30988702	Defining the genetic profile of endometriosis.	Vassilopoulou L et al.	2019	Experimental and therapeutic medicine
31028217	Impact of MDM2, TP53 and P14ARF Polymorphisms on Endometrial Cancer Risk and Onset.	Wujcicka W et al.	2019	In vivo (Athens, Greece)
31055723	TP53 Polymorphism Contributes to the Susceptibility to Bipolar Disorder but Not to Schizophrenia in the Chinese Han Population.	Yang J et al.	2019	Journal of molecular neuroscience
31123171	Association of miR-146a, miR-149 and miR-196a2 polymorphisms with neuroblastoma risk in Eastern Chinese population: a three-center case-control study.	Zhou C et al.	2019	Bioscience reports
31128065	TP53 Gene 72 Arg/Pro (rs1042522) Single Nucleotide Polymorphism Contribute to Increase the Risk of B-Chronic Lymphocytic Leukemia in the Sudanese Population.	Mohammed Basabaeen AA et al.	2019	Asian Pacific journal of cancer prevention
31205533	Five P53 SNPs Involved in Low Rectal Cancer Risk and Prognosis in a Chinese Population.	Zhang G et al.	2019	Journal of Cancer
31211452	Long telomeres cooperate with p53, MDM2, and p21 polymorphisms to raise pediatric solid tumor risk.	Borbora D et al.	2019	Pediatrics international
31293648	Association of the TP53 rs1042522 C>G polymorphism and hepatoblastoma risk in Chinese children.	Yang T et al.	2019	Journal of Cancer
31325764	Association of miR-34b/c rs4938723 and TP53 Arg72Pro Polymorphisms with Neuroblastoma Susceptibility: Evidence from Seven Centers.	Li L et al.	2019	Translational oncology
31387111	Haplotype and linkage disequilibrium of TP53-WRAP53 locus in Iranian-Azeri women with breast cancer.	Pouladi N et al.	2019	PloS one
31435875	Inherited alterations of TGF beta signaling components in Appalachian cervical cancers.	Knobloch TJ et al.	2019	Cancer causes & control
31441737	[Prognostic role of p53 gene polymorphism in risk assessment of anthracycline-induced cardiotoxicity].	Shilov SN et al.	2019	Kardiologiia
31528229	Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.	Al-Eitan LN et al.	2019	Journal of Cancer
31612033	The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.	Ozola A et al.	2019	Oncology letters
31703578	Analysis of polymorphisms, promoter methylation, and mRNA expression profile of maternal and placental P53 and P21 genes in preeclamptic and normotensive pregnant women.	Harati-Sadegh M et al.	2019	Journal of biomedical science
31721533	The Dilemma of TP53 Codon 72 Polymorphism (rs1042522) and Breast Cancer Risk: A Case-Control Study and Meta-Analysis in The Iranian Population.	Afzaljavan F et al.	2020	Cell journal
31762593	The genetic association study of TP53 polymorphisms in Saudi obese patients.	Sabir JSM et al.	2019	Saudi journal of biological sciences
31788124	p53 protein expression affected by TP53 polymorphism is associated with the biological behavior and prognosis of low rectal cancer.	Zhang G et al.	2019	Oncology letters
31818908	Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.	Montazeri Z et al.	2020	Gut
31821471	Polymorphisms and endometriosis: a systematic review and meta-analyses.	Méar L et al.	2020	Human reproduction update
31827503	Two Functional TP53 Genetic Variants and Predisposition to Keloid Scarring in Caucasians.	Dmytrzak A et al.	2019	Dermatology research and practice
31870105	Carcinogen Metabolism Pathway and Tumor Suppressor Gene Polymorphisms and Gallbladder Cancer Risk in North Indians: A Hospital-Based Case-Control Study.	Asai T et al.	2019	Asian Pacific journal of cancer prevention
31895498	The effect of TP53 and P21 gene polymorphisms on papillary thyroid carcinoma susceptibility and clinical/pathological features.	Heidari Z et al.	2020	IUBMB life
31909567	Interactions among variants in P53 apoptotic pathway genes are associated with neurologic deterioration and functional outcome after acute ischemic stroke.	Yi X et al.	2021	Brain and behavior
32001373	Genetic polymorphisms of TP53 (rs1042522) and MDM2 (rs2279744) and colorectal cancer risk: An updated meta-analysis based on 59 case-control studies.	Elshazli RM et al.	2020	Gene
32080966	Effect of maternal HIV infection, BMI and NOx air pollution exposure on birth outcomes in South African pregnant women genotyped for the p53 Pro72Arg (rs1042522).	Naidoo P et al.	2020	International journal of immunogenetics
32083300	The association of miR34b/c and TP53 gene polymorphisms with Wilms tumor risk in Chinese children.	Wang J et al.	2020	Bioscience reports
32166848	Association of TP53 rs1042522 C>G and miR-34b/c rs4938723 T>C polymorphisms with hepatoblastoma susceptibility: A seven-center case-control study.	Liu P et al.	2020	The journal of gene medicine
32207313	Genetic Variation in the TP53 Gene and Patient Outcomes Following Severe Traumatic Brain Injury.	Mellett K et al.	2020	Biological research for nursing
32233050	Association of TP53 rs1042522 with cervical cancer in the sub-Saharan African population: a meta-analysis.	Kamiza AB et al.	2020	Tropical medicine & international health
32287273	DOT: Gene-set analysis by combining decorrelated association statistics.	Vsevolozhskaya OA et al.	2020	PLoS computational biology
32338278	Genetic polymorphisms as non-modifiable susceptibility factors to laryngeal cancer.	Escalante P et al.	2020	Bioscience reports
32406493	TP53 Arg72Pro polymorphism and neuroblastoma susceptibility in eastern Chinese children: a three-center case-control study.	Fang Y et al.	2020	Bioscience reports
32419782	TP53 rs1042522 polymorphism and early-onset breast cancer.	Icen-Taskin I et al.	2020	Journal of research in medical sciences
32492903	Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study.	Tripon F et al.	2020	Journal of clinical medicine
32550823	Application of targeted next generation sequencing for the mutational profiling of patients with acute lymphoblastic leukemia.	Janic D et al.	2020	Journal of medical biochemistry
32651972	Association of polymorphisms in TP53 and the promoter region of IL10 with gastric cancer in a Kazakh population.	Kulmambetova G et al.	2020	Bosnian journal of basic medical sciences
32655615	Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.	Shahid S et al.	2020	Frontiers in genetics
32821748	Evaluation of TP53 Codon 72, P21 Codon 31, and MDM2 SNP309 Polymorphisms in Iranian Patients with Acute Lymphocytic Leukemia.	Lotfi Garavand A et al.	2020	Reports of biochemistry & molecular biology
32882831	Intronic TP53 Polymorphisms Are Associated with Increased Δ133TP53 Transcript, Immune Infiltration and Cancer Risk.	Eiholzer RA et al.	2020	Cancers
32888145	Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.	Rogoża-Janiszewska E et al.	2021	Breast cancer (Tokyo, Japan)
32972771	Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia.	Rosas I et al.	2021	Neurobiology of aging
33126568	The P72R Polymorphism in R248Q/W p53 Mutants Modifies the Mutant Effect on Epithelial to Mesenchymal Transition Phenotype and Cell Invasion via CXCL1 Expression.	De Souza C et al.	2020	International journal of molecular sciences
33257846	Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.	Doffe F et al.	2021	Cell death and differentiation
33262486	Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.		2020	European journal of human genetics
33290139	A Shared Susceptibility Locus in the p53 Gene for both Gastric and Esophageal Cancers in a Northwestern Chinese Population.	Cao J et al.	2020	Genetic testing and molecular biomarkers
33297469	Current and New Biomarkers for Early Detection, Prognostic Stratification, and Management of Gallbladder Cancer Patients.	García P et al.	2020	Cancers
33481818	Association between tobacco substance usage and a missense mutation in the tumor suppressor gene P53 in the Saudi Arabian population.	Almutairi MH et al.	2021	PloS one
33555293	Effect of the p53 P72R Polymorphism on Mutant TP53 Allele Selection in Human Cancer.	De Souza C et al.	2021	Journal of the National Cancer Institute
33720087	Pediatric Non-Alcoholic Fatty Liver Disease Is Affected by Genetic Variants Involved in Lifespan/Healthspan.	Crudele A et al.	2021	Journal of pediatric gastroenterology and nutrition
33767783	Relationship between TP53 and interleukin-6 gene variants and the risk of types 1 and 2 diabetes mellitus development in the Kermanshah province.	Haghnazari L et al.	2021	Journal of medicine and life
33797738	Association Between Genetic Variants in the lncRNA-p53 Regulatory Network and Ischemic Stroke Prognosis.	Liu X et al.	2021	Neurotoxicity research
33883929	Risk of Colorectal Carcinoma May Predispose to the Genetic Variants of the GST, CYP450, and TP53 Genes Among Nonsmokers in the Saudi Community.	Sindi IA et al.	2021	International journal of general medicine
33906323	The Association of Aging-Related Polymorphisms with Susceptibility to Lung Cancer: A Case-Control Study in a Japanese Population.	Furuie H et al.	2021	Asian Pacific journal of cancer prevention
33941312	Whole-genome sequencing analysis of semi-supercentenarians.	Garagnani P et al.	2021	eLife
33942220	Male and female breast cancer: the two faces of the same genetic susceptibility coin.	Silva SN et al.	2021	Breast cancer research and treatment
33959694	The cell cycle regulatory gene polymorphisms TP53 (rs1042522) and MDM2 (rs2279744) in lung cancer: a meta-analysis.	Bulgakova O et al.	2020	Vavilovskii zhurnal genetiki i selektsii
34077778	Polymorphisms in the TP53-MDM2-MDM4-axis in patients with rheumatoid arthritis.	Gansmo LB et al.	2021	Gene
34131278	Genetic polymorphisms associated with obesity in the Arab world: a systematic review.	Younes S et al.	2021	International journal of obesity (2005)
34190520	A variant of TP53 gene (rs 1625895, 13494g>A) is associated with neoplasm localization in patients with uterine leiomyoma.	Kornatska AG et al.	2021	Experimental oncology
34227093	Crosstalk of Cyclin-dependent kinase inhibitor 1A (CDKN1A) gene polymorphism with p53 and CCND1 polymorphism in breast cancer.	Akhter N et al.	2021	European review for medical and pharmacological sciences
34272429	A comprehensive meta-analysis and a case-control study give insights into genetic susceptibility of lung cancer and subgroups.	Sengupta D et al.	2021	Scientific reports
34284087	Ethnicity-stratified analysis of the association between P53 rs1042522 polymorphism and women HPV infection: A meta-analysis.	Si D et al.	2021	Microbial pathogenesis
34307186	Functional Polymorphisms in the p53 Pathway Genes on the Genetic Susceptibility to Zika Virus Teratogenesis.	Gomes JA et al.	2021	Frontiers in cellular and infection microbiology
34319543	Genetic analysis of colorectal carcinoma using high throughput single nucleotide polymorphism genotyping technique within the population of Jammu and Kashmir.	Sharma B et al.	2021	Molecular biology reports
34386081	Role of CXCL12, TP53 and CYP1A1 gene polymorphisms in susceptibility to pediatric acute lymphoblastic leukemia.	Kampouraki E et al.	2021	Oncology letters
34393505	Different Roles of TP53 Codon 72 Polymorphism in Type 2 Diabetes and Its Complications: Evidence from a Case-Control Study on a Chinese Han Population.	Guo D et al.	2021	International journal of general medicine
34441352	The Investigation of Associations between TP53 rs1042522, BBC3 rs2032809, CCND1 rs9344, EGFR rs2227983 Polymorphisms and Breast Cancer Phenotype and Prognosis.	Bekampytė J et al.	2021	Diagnostics (Basel, Switzerland)
34478609	In search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populations.	Lo Piccolo L et al.	2021	Tropical medicine & international health
34540891	Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk.	Li X et al.	2021	Frontiers in molecular biosciences
34576245	Biomolecular Markers of Recurrent Implantation Failure-A Review.	Mrozikiewicz AE et al.	2021	International journal of molecular sciences
34591432	Association of lipoprotein lipase expression with TP53 gene polymorphisms in chronic lymphocytic leukemia cells.	Abramenko I et al.	2021	Experimental oncology
34606635	Effect of NPC1L1 polymorphism on warfarin stable dose in Chinese patients under heart valve replacement surgery.	Ma S et al.	2022	Clinical and experimental pharmacology & physiology
34618298	Genetic variants in the p53 pathway influence implantation and pregnancy maintenance in IVF treatments using donor oocytes.	Palomares AR et al.	2021	Journal of assisted reproduction and genetics
34683108	Targeted Next-Generation Sequencing for the Identification of Genetic Predictors of Radiation-Induced Late Skin Toxicity in Breast Cancer Patients: A Preliminary Study.	Cargnin S et al.	2021	Journal of personalized medicine
34783250	Whole-exome sequencing reveals novel candidate single nucleotide variations for preventing adverse effects of levonorgestrel implantation.	Zhu W et al.	2021	Pharmacogenomics
34783301	Anthracycline-induced cardiotoxicity in women without cardiovascular diseases: molecular and genetic predictors.	Kopeva KV et al.	2022	Acta cardiologica
34916119	Genome-wide gene and serum ferritin interaction in the development of type 2 diabetes in adults aged 40 years or older.	Kim J et al.	2022	Nutrition, metabolism, and cardiovascular diseases
34995174	ATM and TP53 polymorphisms modified susceptibility to radiation-induced lens opacity in natural high background radiation area, China.	Gao Y et al.	2022	International journal of radiation biology
35038823	Genomic Correlates of Unfavorable Outcome in Locally Advanced Cervical Cancer Treated with Neoadjuvant Chemoradiation.	Wei Y et al.	2022	Cancer research and treatment
35123410	Importance of TP53 codon 72 and intron 3 duplication 16 bp polymorphisms and their haplotypes in susceptibility to sarcopenia in Iranian older adults.	Montazeri-Najafabady N et al.	2022	BMC geriatrics
35342856	Association between ТР53, MDM2 and NQO1 gene polymorphisms and viral load among women with human papillomavirus.	AlBosale AH et al.	2022	Vavilovskii zhurnal genetiki i selektsii
35351459	TP53 common variants and interaction with PPP1R13L and CD3EAP SNPs and lung cancer risk and smoking behavior in a Chinese population.	Yin J et al.	2022	Biomedical journal
35364453	Smoking is associated with age at disease onset in Parkinson's disease.	Rosas I et al.	2022	Parkinsonism & related disorders
35566612	Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?	Belamkar A et al.	2022	Journal of clinical medicine
35776848	Association between TP53 Arg72Pro variant and recurrent pregnancy loss in the Greek population.	Dedousi D et al.	2022	Hormone molecular biology and clinical investigation
35801418	Mutational landscape of primary breast angiosarcoma with repeated resection and recurrence over a 15-year period: A case report.	Teruyama F et al.	2022	Pathology international
35872366	Association of ATG16L1 rs2241880 and TP53 rs1042522 with characteristics and course of diffuse large B-cell lymphoma.	Živanović A et al.	2022	Pathology, research and practice
35984915	DNA repair in lung cancer: a large-scale quantitative analysis for polymorphisms in DNA repairing pathway genes and lung cancer susceptibility.	Liao Z et al.	2022	Expert review of respiratory medicine
35996546	Association of TP53 rs1042522 C>G Polymorphism with Glioma Risk in Chinese Children.	Liao F et al.	2022	BioMed research international
36039053	Impact on breast cancer susceptibility and clinicopathological traits of common genetic polymorphisms in TP53, MDM2 and ATM genes in Sardinian women.	Floris M et al.	2022	Oncology letters
36059664	Associations of MDM2 rs2279744 and TP53 rs1042522 polymorphisms with cervical cancer risk: A meta-analysis and systematic review.	Yu M et al.	2022	Frontiers in oncology

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1042522