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dbSNP Short Genetic Variations

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.

rs2279744

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:68808800 (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
T>A / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.315365 (83474/264690, TOPMED)
G=0.306509 (42861/139836, GnomAD)
G=0.31513 (24796/78684, PAGE_STUDY) (+ 16 more)
G=0.31853 (13223/41512, ALFA)
T=0.44676 (12612/28230, 14KJPN)
T=0.45291 (7588/16754, 8.3KJPN)
G=0.3562 (2281/6404, 1000G_30x)
G=0.3666 (1836/5008, 1000G)
G=0.3433 (1538/4480, Estonian)
G=0.3620 (1395/3854, ALSPAC)
G=0.3514 (1303/3708, TWINSUK)
T=0.4482 (1307/2916, KOREAN)
T=0.4431 (810/1828, Korea1K)
G=0.370 (222/600, NorthernSweden)
T=0.330 (122/370, SGDP_PRJ)
G=0.477 (103/216, Qatari)
T=0.466 (96/206, Vietnamese)
T=0.30 (16/54, Siberian)
G=0.35 (14/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MDM2 : Intron Variant
Publications
149 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 41512 T=0.68147 A=0.00000, G=0.31853 0.490991 0.128059 0.38095 32
European Sub 28262 T=0.68014 A=0.00000, G=0.31986 0.475621 0.115349 0.40903 27
African Sub 4982 T=0.9291 A=0.0000, G=0.0709 0.86953 0.01124 0.119229 12
African Others Sub 174 T=0.966 A=0.000, G=0.034 0.942529 0.011494 0.045977 5
African American Sub 4808 T=0.9278 A=0.0000, G=0.0722 0.866889 0.011231 0.12188 11
Asian Sub 388 T=0.492 A=0.000, G=0.508 0.237113 0.252577 0.510309 0
East Asian Sub 338 T=0.470 A=0.000, G=0.530 0.213018 0.272189 0.514793 0
Other Asian Sub 50 T=0.64 A=0.00, G=0.36 0.4 0.12 0.48 0
Latin American 1 Sub 488 T=0.717 A=0.000, G=0.283 0.516393 0.081967 0.401639 0
Latin American 2 Sub 4210 T=0.4264 A=0.0000, G=0.5736 0.191924 0.339192 0.468884 2
South Asian Sub 96 T=0.57 A=0.00, G=0.43 0.458333 0.3125 0.229167 8
Other Sub 3086 T=0.6633 A=0.0000, G=0.3367 0.45755 0.130914 0.411536 6


Help

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 T=0.684635 G=0.315365
gnomAD - Genomes Global Study-wide 139836 T=0.693491 G=0.306509
gnomAD - Genomes European Sub 75718 T=0.63700 G=0.36300
gnomAD - Genomes African Sub 41918 T=0.89155 G=0.10845
gnomAD - Genomes American Sub 13612 T=0.50786 G=0.49214
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.4886 G=0.5114
gnomAD - Genomes East Asian Sub 3116 T=0.4669 G=0.5331
gnomAD - Genomes Other Sub 2152 T=0.6417 G=0.3583
The PAGE Study Global Study-wide 78684 T=0.68487 G=0.31513
The PAGE Study AfricanAmerican Sub 32512 T=0.88558 G=0.11442
The PAGE Study Mexican Sub 10808 T=0.41192 G=0.58808
The PAGE Study Asian Sub 8312 T=0.4583 G=0.5417
The PAGE Study PuertoRican Sub 7916 T=0.6392 G=0.3608
The PAGE Study NativeHawaiian Sub 4534 T=0.6489 G=0.3511
The PAGE Study Cuban Sub 4230 T=0.6508 G=0.3492
The PAGE Study Dominican Sub 3828 T=0.7424 G=0.2576
The PAGE Study CentralAmerican Sub 2450 T=0.4910 G=0.5090
The PAGE Study SouthAmerican Sub 1980 T=0.4475 G=0.5525
The PAGE Study NativeAmerican Sub 1258 T=0.5851 G=0.4149
The PAGE Study SouthAsian Sub 856 T=0.482 G=0.518
Allele Frequency Aggregator Total Global 41512 T=0.68147 A=0.00000, G=0.31853
Allele Frequency Aggregator European Sub 28262 T=0.68014 A=0.00000, G=0.31986
Allele Frequency Aggregator African Sub 4982 T=0.9291 A=0.0000, G=0.0709
Allele Frequency Aggregator Latin American 2 Sub 4210 T=0.4264 A=0.0000, G=0.5736
Allele Frequency Aggregator Other Sub 3086 T=0.6633 A=0.0000, G=0.3367
Allele Frequency Aggregator Latin American 1 Sub 488 T=0.717 A=0.000, G=0.283
Allele Frequency Aggregator Asian Sub 388 T=0.492 A=0.000, G=0.508
Allele Frequency Aggregator South Asian Sub 96 T=0.57 A=0.00, G=0.43
14KJPN JAPANESE Study-wide 28230 T=0.44676 G=0.55324
8.3KJPN JAPANESE Study-wide 16754 T=0.45291 G=0.54709
1000Genomes_30x Global Study-wide 6404 T=0.6438 G=0.3562
1000Genomes_30x African Sub 1786 T=0.9233 G=0.0767
1000Genomes_30x Europe Sub 1266 T=0.6493 G=0.3507
1000Genomes_30x South Asian Sub 1202 T=0.4800 G=0.5200
1000Genomes_30x East Asian Sub 1170 T=0.4650 G=0.5350
1000Genomes_30x American Sub 980 T=0.542 G=0.458
1000Genomes Global Study-wide 5008 T=0.6334 G=0.3666
1000Genomes African Sub 1322 T=0.9266 G=0.0734
1000Genomes East Asian Sub 1008 T=0.4623 G=0.5377
1000Genomes Europe Sub 1006 T=0.6451 G=0.3549
1000Genomes South Asian Sub 978 T=0.472 G=0.528
1000Genomes American Sub 694 T=0.533 G=0.467
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6567 G=0.3433
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6380 G=0.3620
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6486 G=0.3514
KOREAN population from KRGDB KOREAN Study-wide 2916 T=0.4482 G=0.5518
Korean Genome Project KOREAN Study-wide 1828 T=0.4431 G=0.5569
Northern Sweden ACPOP Study-wide 600 T=0.630 G=0.370
SGDP_PRJ Global Study-wide 370 T=0.330 G=0.670
Qatari Global Study-wide 216 T=0.523 G=0.477
A Vietnamese Genetic Variation Database Global Study-wide 206 T=0.466 G=0.534
Siberian Global Study-wide 54 T=0.30 G=0.70
The Danish reference pan genome Danish Study-wide 40 T=0.65 G=0.35
Help

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 12 NC_000012.12:g.68808800T>A
GRCh38.p14 chr 12 NC_000012.12:g.68808800T>G
GRCh37.p13 chr 12 NC_000012.11:g.69202580T>A
GRCh37.p13 chr 12 NC_000012.11:g.69202580T>G
MDM2 RefSeqGene NG_016708.1:g.5610T>A
MDM2 RefSeqGene NG_016708.1:g.5610T>G
Gene: MDM2, MDM2 proto-oncogene (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MDM2 transcript variant 2 NM_001145339.2:c.14+309T>A N/A Intron Variant
MDM2 transcript variant 1 NM_002392.6:c.14+309T>A N/A Intron Variant
MDM2 transcript variant 3 NM_001145337.3:c. N/A Genic Upstream Transcript Variant
MDM2 transcript variant 4 NM_001145340.3:c. N/A Genic Upstream Transcript Variant
MDM2 transcript variant 5 NM_001278462.2:c. N/A Genic Upstream Transcript Variant
MDM2 transcript variant 6 NM_001367990.1:c. N/A Genic Upstream Transcript Variant
MDM2 transcript variant X1 XM_047428853.1:c. N/A Genic Upstream Transcript Variant
Help

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: 28943 )
ClinVar Accession Disease Names Clinical Significance
RCV000014918.8 Accelerated tumor formation, susceptibility to Benign
Help

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 T= A G
GRCh38.p14 chr 12 NC_000012.12:g.68808800= NC_000012.12:g.68808800T>A NC_000012.12:g.68808800T>G
GRCh37.p13 chr 12 NC_000012.11:g.69202580= NC_000012.11:g.69202580T>A NC_000012.11:g.69202580T>G
MDM2 RefSeqGene NG_016708.1:g.5610= NG_016708.1:g.5610T>A NG_016708.1:g.5610T>G
MDM2 transcript variant 2 NM_001145339.2:c.14+309= NM_001145339.2:c.14+309T>A NM_001145339.2:c.14+309T>G
MDM2 transcript variant 1 NM_002392.5:c.14+309= NM_002392.5:c.14+309T>A NM_002392.5:c.14+309T>G
MDM2 transcript variant 1 NM_002392.6:c.14+309= NM_002392.6:c.14+309T>A NM_002392.6:c.14+309T>G
Help

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#.

68 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3217515 Sep 28, 2001 (100)
2 SC_SNP ss16186292 Feb 27, 2004 (120)
3 BGI ss106813641 Feb 06, 2009 (130)
4 ENSEMBL ss142671014 Dec 01, 2009 (131)
5 ILLUMINA ss160527480 Dec 01, 2009 (131)
6 1000GENOMES ss225811976 Jul 14, 2010 (132)
7 1000GENOMES ss235977224 Jul 15, 2010 (132)
8 1000GENOMES ss242529112 Jul 15, 2010 (132)
9 BL ss255200752 May 09, 2011 (134)
10 GMI ss281442462 May 04, 2012 (137)
11 GMI ss286581095 Apr 25, 2013 (138)
12 PJP ss291274869 May 09, 2011 (134)
13 BASICKPUM ss410758786 Sep 17, 2011 (135)
14 ILLUMINA ss481324245 Sep 08, 2015 (146)
15 TISHKOFF ss563233875 Apr 25, 2013 (138)
16 SSMP ss658798560 Apr 25, 2013 (138)
17 EVA-GONL ss989654883 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1078547831 Aug 21, 2014 (142)
19 1000GENOMES ss1345487914 Aug 21, 2014 (142)
20 DDI ss1426968526 Apr 01, 2015 (144)
21 OMIM-CURATED-RECORDS ss1505810931 Dec 08, 2014 (142)
22 EVA_GENOME_DK ss1576350634 Apr 01, 2015 (144)
23 EVA_DECODE ss1599332826 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1628834911 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1671828944 Apr 01, 2015 (144)
26 WEILL_CORNELL_DGM ss1933018532 Feb 12, 2016 (147)
27 ILLUMINA ss1959445207 Feb 12, 2016 (147)
28 JJLAB ss2027259521 Sep 14, 2016 (149)
29 USC_VALOUEV ss2155602191 Dec 20, 2016 (150)
30 HUMAN_LONGEVITY ss2190757598 Dec 20, 2016 (150)
31 SYSTEMSBIOZJU ss2628112533 Nov 08, 2017 (151)
32 GRF ss2699951849 Nov 08, 2017 (151)
33 GNOMAD ss2911874906 Nov 08, 2017 (151)
34 SWEGEN ss3009882946 Nov 08, 2017 (151)
35 ILLUMINA ss3021442265 Nov 08, 2017 (151)
36 CSHL ss3350117479 Nov 08, 2017 (151)
37 ILLUMINA ss3636196267 Oct 12, 2018 (152)
38 OMUKHERJEE_ADBS ss3646444497 Oct 12, 2018 (152)
39 URBANLAB ss3649863054 Oct 12, 2018 (152)
40 ILLUMINA ss3651822863 Oct 12, 2018 (152)
41 EGCUT_WGS ss3677153627 Jul 13, 2019 (153)
42 EVA_DECODE ss3693900575 Jul 13, 2019 (153)
43 ILLUMINA ss3725335407 Jul 13, 2019 (153)
44 ACPOP ss3739123511 Jul 13, 2019 (153)
45 EVA ss3750620271 Jul 13, 2019 (153)
46 PAGE_CC ss3771699642 Jul 13, 2019 (153)
47 PACBIO ss3787258829 Jul 13, 2019 (153)
48 PACBIO ss3792354808 Jul 13, 2019 (153)
49 PACBIO ss3797237657 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3815952605 Jul 13, 2019 (153)
51 EVA ss3833181082 Apr 27, 2020 (154)
52 SGDP_PRJ ss3878519555 Apr 27, 2020 (154)
53 KRGDB ss3927187736 Apr 27, 2020 (154)
54 KOGIC ss3972170060 Apr 27, 2020 (154)
55 TOPMED ss4922499181 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5206862950 Apr 26, 2021 (155)
57 1000G_HIGH_COVERAGE ss5291225438 Oct 16, 2022 (156)
58 EVA ss5406391056 Oct 16, 2022 (156)
59 HUGCELL_USP ss5485928498 Oct 16, 2022 (156)
60 EVA ss5510744226 Oct 16, 2022 (156)
61 1000G_HIGH_COVERAGE ss5588923654 Oct 16, 2022 (156)
62 SANFORD_IMAGENETICS ss5653386634 Oct 16, 2022 (156)
63 TOMMO_GENOMICS ss5756814607 Oct 16, 2022 (156)
64 YY_MCH ss5813399829 Oct 16, 2022 (156)
65 EVA ss5838124195 Oct 16, 2022 (156)
66 EVA ss5850429169 Oct 16, 2022 (156)
67 EVA ss5904862070 Oct 16, 2022 (156)
68 EVA ss5944758571 Oct 16, 2022 (156)
69 1000Genomes NC_000012.11 - 69202580 Oct 12, 2018 (152)
70 1000Genomes_30x NC_000012.12 - 68808800 Oct 16, 2022 (156)
71 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 69202580 Oct 12, 2018 (152)
72 Genetic variation in the Estonian population NC_000012.11 - 69202580 Oct 12, 2018 (152)
73 The Danish reference pan genome NC_000012.11 - 69202580 Apr 27, 2020 (154)
74 gnomAD - Genomes NC_000012.12 - 68808800 Apr 26, 2021 (155)
75 KOREAN population from KRGDB NC_000012.11 - 69202580 Apr 27, 2020 (154)
76 Korean Genome Project NC_000012.12 - 68808800 Apr 27, 2020 (154)
77 Northern Sweden NC_000012.11 - 69202580 Jul 13, 2019 (153)
78 The PAGE Study NC_000012.12 - 68808800 Jul 13, 2019 (153)
79 Qatari NC_000012.11 - 69202580 Apr 27, 2020 (154)
80 SGDP_PRJ NC_000012.11 - 69202580 Apr 27, 2020 (154)
81 Siberian NC_000012.11 - 69202580 Apr 27, 2020 (154)
82 8.3KJPN NC_000012.11 - 69202580 Apr 26, 2021 (155)
83 14KJPN NC_000012.12 - 68808800 Oct 16, 2022 (156)
84 TopMed NC_000012.12 - 68808800 Apr 26, 2021 (155)
85 UK 10K study - Twins NC_000012.11 - 69202580 Oct 12, 2018 (152)
86 A Vietnamese Genetic Variation Database NC_000012.11 - 69202580 Jul 13, 2019 (153)
87 ALFA NC_000012.12 - 68808800 Apr 26, 2021 (155)
88 ClinVar RCV000014918.8 Oct 16, 2022 (156)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9737989705 NC_000012.12:68808799:T:A NC_000012.12:68808799:T:A (self)
ss255200752, ss281442462, ss286581095, ss291274869, ss1599332826 NC_000012.10:67488846:T:G NC_000012.12:68808799:T:G (self)
58254299, 32343942, 22891875, 3009197, 34365130, 12408376, 15060462, 30536535, 8118545, 64832257, 32343942, 7177827, ss225811976, ss235977224, ss242529112, ss481324245, ss563233875, ss658798560, ss989654883, ss1078547831, ss1345487914, ss1426968526, ss1576350634, ss1628834911, ss1671828944, ss1933018532, ss1959445207, ss2027259521, ss2155602191, ss2628112533, ss2699951849, ss2911874906, ss3009882946, ss3021442265, ss3350117479, ss3636196267, ss3646444497, ss3651822863, ss3677153627, ss3739123511, ss3750620271, ss3787258829, ss3792354808, ss3797237657, ss3833181082, ss3878519555, ss3927187736, ss5206862950, ss5406391056, ss5510744226, ss5653386634, ss5838124195, ss5944758571 NC_000012.11:69202579:T:G NC_000012.12:68808799:T:G (self)
RCV000014918.8, 76449589, 410827281, 28548061, 921111, 90651711, 138044838, 9737989705, ss1505810931, ss2190757598, ss3649863054, ss3693900575, ss3725335407, ss3771699642, ss3815952605, ss3972170060, ss4922499181, ss5291225438, ss5485928498, ss5588923654, ss5756814607, ss5813399829, ss5850429169, ss5904862070 NC_000012.12:68808799:T:G NC_000012.12:68808799:T:G (self)
ss16186292 NT_029419.10:31345885:T:G NC_000012.12:68808799:T:G (self)
ss3217515, ss106813641, ss142671014, ss160527480, ss410758786 NT_029419.12:31345885:T:G NC_000012.12:68808799:T:G (self)
Help

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

149 citations for rs2279744
PMID Title Author Year Journal
15550242 A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Bond GL et al. 2004 Cell
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
17003841 The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes. Ruijs MW et al. 2007 European journal of human genetics
17360557 Haplotype structure and selection of the MDM2 oncogene in humans. Atwal GS et al. 2007 Proceedings of the National Academy of Sciences of the United States of America
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
17634539 MDM2 SNP309 polymorphism as risk factor for susceptibility and poor prognosis in renal cell carcinoma. Hirata H et al. 2007 Clinical cancer research
17957785 Genetic polymorphisms of MDM2, cumulative cigarette smoking and nonsmall cell lung cancer risk. Liu G et al. 2008 International journal of cancer
18332046 A distinct ERCC1 haplotype is associated with mRNA expression levels in prostate cancer patients. Woelfelschneider A et al. 2008 Carcinogenesis
18433484 Early onset lung cancer, cigarette smoking and the SNP309 of the murine double minute-2 (MDM2) gene. Mittelstrass K et al. 2008 BMC cancer
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
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
19193430 Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer. Ashton KA et al. 2009 Gynecologic oncology
19237173 Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy. Hirata H et al. 2009 The Journal of urology
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
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
19497887 Altered tumor formation and evolutionary selection of genetic variants in the human MDM4 oncogene. Atwal GS et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
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
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
19751436 Interaction of Helicobacter pylori with genetic variants in the MDM2 promoter, is associated with gastric cancer susceptibility in Chinese patients. Wang X et al. 2009 Helicobacter
19837266 TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. Do TN et al. 2009 Cancer genetics and cytogenetics
20200430 TP53, MDM2, NQO1, and susceptibility to cervical cancer. Hu X et al. 2010 Cancer epidemiology, biomarkers & prevention
20447891 MDM2 promoter polymorphism is associated with increased susceptibility to hepatocellular carcinoma in Turkish population. Akkiz H et al. 2010 Cancer epidemiology
20452958 Single-nucleotide polymorphisms in the p53 signaling pathway. Grochola LF et al. 2010 Cold Spring Harbor perspectives in biology
20587610 Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. Ucisik-Akkaya E et al. 2010 Molecular human reproduction
20617153 Detection of fetomaternal genotype associations in early-onset disorders: evaluation of different methods and their application to childhood leukemia. Healy J et al. 2010 Journal of biomedicine & biotechnology
20736372 Human papillomavirus seropositivity synergizes with MDM2 variants to increase the risk of oral squamous cell carcinoma. Chen X et al. 2010 Cancer research
20855462 Single-nucleotide polymorphisms in p53 pathway and aggressiveness of prostate cancer in a Caucasian population. Sun T et al. 2010 Clinical cancer research
20922573 Functional polymorphisms associated with disease-free survival in resected carcinoma of the esophagus. Boonstra JJ et al. 2011 Journal of gastrointestinal surgery
20979563 MDM2 and CDKN1A gene polymorphisms and risk of Kaposi's sarcoma in African and Caucasian patients. Tornesello ML et al. 2011 Biomarkers
21051655 MDM2 as a modifier gene in retinoblastoma. Castéra L et al. 2010 Journal of the National Cancer Institute
21240526 Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review. Jin F et al. 2011 Journal of cancer research and clinical oncology
21268124 MDM2 SNP309 contributes to non-small cell lung cancer survival in Chinese. Dong J et al. 2011 Molecular carcinogenesis
21305319 Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. Wu CC et al. 2011 Human genetics
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
21540763 Polymorphisms of MDM4 and risk of squamous cell carcinoma of the head and neck. Yu H et al. 2011 Pharmacogenetics and genomics
21619704 A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma. Mirabello L 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
21779510 Regulation of Fertility by the p53 Family Members. Hu W et al. 2011 Genes & cancer
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
22004425 Genetic risk of hepatocellular carcinoma in patients with hepatitis C virus: a case control study. Tomoda T et al. 2012 Journal of gastroenterology and hepatology
22052649 Combined p53-related genetic variants together with HPV infection increase oral cancer risk. Wang Z et al. 2012 International journal of cancer
22180099 Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma. de Oliveira Reis AH et al. 2012 Pediatric blood & cancer
22251423 NAMPT (visfatin) and AKT1 genetic variants associate with myocardial infarction. Leander K et al. 2012 Clinica chimica acta; international journal of clinical chemistry
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
22347493 Genetic variation in cell death genes and risk of non-Hodgkin lymphoma. Schuetz JM et al. 2012 PloS one
22916154 Analysis of MDM2 and MDM4 single nucleotide polymorphisms, mRNA splicing and protein expression in retinoblastoma. McEvoy J et al. 2012 PloS one
23145162 Genetic variation in MDM2 and p14ARF and susceptibility to salivary gland carcinoma. Jin L et al. 2012 PloS one
23210739 Association of MDM2 and p53 polymorphisms with the advancement of cervical carcinoma. Singhal P et al. 2013 DNA and cell biology
23218882 Significance of MDM2 and P14 ARF polymorphisms in susceptibility to differentiated thyroid carcinoma. Zhang F et al. 2013 Surgery
23244604 Identification of functional DNA variants in the constitutive promoter region of MDM2. Lalonde ME et al. 2012 Human genomics
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
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)
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
24061636 Murine double minute 2 rs2279744 polymorphism and hepatocellular carcinoma risk in East Asians: a meta-analysis. Liu Y et al. 2014 Tumour biology
24122202 Effects of murine double minute 2 polymorphisms on the risk and survival of osteosarcoma: a systemic review and meta-analysis. Wang L et al. 2014 Tumour biology
24205329 Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data. Bryzgalov LO et al. 2013 PloS one
24293392 MDM2 rs2279744 polymorphism and endometrial cancer: a meta-analysis. Wang LH et al. 2014 Tumour biology
24340057 Genetic variations in radiation and chemotherapy drug action pathways and survival in locoregionally advanced nasopharyngeal carcinoma treated with chemoradiotherapy. Liu H et al. 2013 PloS one
24435975 p53 signaling pathway polymorphisms associated to recurrent pregnancy loss. Fraga LR et al. 2014 Molecular biology reports
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
24654968 Germline genetics of the p53 pathway affect longevity in a gender specific manner. Groß S et al. 2014 Current aging science
24792886 Common variant on MDM2 contributes to endometrial cancer susceptibility: evidence based on 7 studies. Zhao Y et al. 2014 Tumour biology
24797837 MDM2 SNP309 polymorphism is associated with colorectal cancer risk. Wang W et al. 2014 Scientific reports
25054017 Single-nucleotide polymorphism (c.309T>G) in the MDM2 gene and lung cancer risk. Enokida Y et al. 2014 Biomedical reports
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)
25366142 Impact of MDM2 gene polymorphism on sarcoma risk. Zhang D et al. 2015 Tumour biology
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)
25431177 Influence of MDM2 SNP309 and SNP285 status on the risk of cancer in the breast, prostate, lung and colon. Gansmo LB et al. 2015 International journal of cancer
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)
25511444 Age-dependent association of MDM2 promoter polymorphisms and uterine leiomyoma in South-East Iran: A preliminary report. Salimi S et al. 2015 The journal of obstetrics and gynaecology research
25734904 Impact of TP53 codon 72 and MDM2 SNP 309 polymorphisms in pancreatic ductal adenocarcinoma. Hori Y et al. 2015 PloS one
25928231 Association of 42 SNPs with genetic risk for cervical cancer: an extensive meta-analysis. Wang S et al. 2015 BMC medical genetics
26025918 MDM2 and P53 polymorphisms contribute together to the risk and survival of prostate cancer. Xue L et al. 2016 Oncotarget
26135929 A Systematic Review and Meta-Analysis of Three Gene Variants Association with Risk of Prostate Cancer: An Update. Chen Y et al. 2015 Urology journal
26224627 Murine Double-Minute 2 Homolog Single Nucleotide Polymorphisms 285 and 309 in Cervical Carcinogenesis. Roszak A et al. 2015 Molecular diagnosis & therapy
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
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
26471763 MDM4 SNP34091 (rs4245739) and its effect on breast-, colon-, lung-, and prostate cancer risk. Gansmo LB et al. 2015 Cancer medicine
26672516 Association between MDM2 SNP309 T>G polymorphism and the risk of bladder cancer: new data in a Chinese population and an updated meta-analysis. Xie L et al. 2015 OncoTargets and therapy
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
26945408 Is MDM2 SNP309 Variation a Risk Factor for Head and Neck Carcinoma?: An Updated Meta-Analysis Based on 11,552 Individuals. Zhuo X et al. 2016 Medicine
26967244 Systematic meta-analyses of gene-specific genetic association studies in prostate cancer. Hao Q et al. 2016 Oncotarget
27228500 Prognostic potential of the MDM2 309T>G polymorphism in stage I lung adenocarcinoma. Enokida Y et al. 2016 Cancer medicine
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
27330794 Association of MDM2 promoter T309G polymorphism with oral cancer risk: A meta-analysis of 3,536 subjects. Yang XI et al. 2016 Molecular and clinical oncology
27438225 A systematic review and meta-analysis of MDM2 polymorphisms in osteosarcoma susceptibility. Bilbao-Aldaiturriaga N et al. 2016 Pediatric research
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
27588484 Gene-gene interactions in gastrointestinal cancer susceptibility. Kim J et al. 2016 Oncotarget
27608007 Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients. Dreussi E et al. 2016 International journal of molecular sciences
27624283 MDM2 promoter SNP55 (rs2870820) affects risk of colon cancer but not breast-, lung-, or prostate cancer. Helwa R et al. 2016 Scientific reports
27785069 Influence of MDM2 polymorphisms on squamous cell carcinoma susceptibility: a meta-analysis. Yu H et al. 2016 OncoTargets and therapy
27801956 Mutations in apoptotic genes and micronucleus occurrence in vinyl chloride-exposed workers in China. Feng N et al. 2017 Environmental and molecular mutagenesis
28083704 MDM2 gene polymorphisms and risk of classic Kaposi's sarcoma among Iranian patients. Varmazyar S et al. 2017 Medical microbiology and immunology
28158999 MDM2 promoter polymorphism del1518 (rs3730485) and its impact on endometrial and ovarian cancer risk. Gansmo LB et al. 2017 BMC cancer
28324443 Among 45 variants in 11 genes, HDM2 promoter polymorphisms emerge as new candidate biomarker associated with radiation toxicity. Alsbeih G et al. 2014 3 Biotech
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
28676527 The ID genotype of MDM2 40 bp insertion/deletion polymorphism was associated with lower risk of SLE. Salimi S et al. 2017 Postgraduate medical journal
28756477 p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers. Macedo GS et al. 2018 Familial cancer
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
28881764 Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology. Wu MY et al. 2017 Oncotarget
29090237 Lack of an Association between a Functional Polymorphism in the MDM2 Promoter and Breast Cancer in Women in Northeast Iran. Tavakkol Afshari Z et al. 2017 Reports of biochemistry & molecular biology
29096752 The association between murine double minute 2 (MDM2) rs2279744 and endometrial cancer risk in a Chinese Han population. Wu JP et al. 2017 Cellular and molecular biology (Noisy-le-Grand, France)
29181159 Investigation of the association between the MDM2 T309G polymorphism and gastric cancer. Tas A et al. 2017 Biomedical reports
29480845 Association of rs2279744 and rs117039649 promoter polymorphism with the risk of gynecological cancer: A meta-analysis of case-control studies. Zhang J et al. 2018 Medicine
29699057 Significant Association of the MDM2 T309G Polymorphism with Breast Cancer Risk in a Turkish Population. Yilmaz M et al. 2018 Asian Pacific journal of cancer prevention
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
30194081 Contribution of Murine Double Minute 2 Genotypes to Colorectal Cancer Risk in Taiwan. Yueh TC et al. 2018 Cancer genomics & proteomics
30337837 Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. Wen J et al. 2018 Cancer cell international
30355102 Single-Nucleotide Polymorphism 309T>G in the MDM2 Promoter Determines Functional Outcome After Stroke. Rodríguez C et al. 2018 Stroke
30544467 Association between MDM2 rs2279744, MDM2 rs937283, and p21 rs1801270 polymorphisms and retinoblastoma susceptibility. Cao Q et al. 2018 Medicine
30548972 Role of MDM2 309T>G (rs2279744) and I/D (rs3730485) polymorphisms and haplotypes in risk of papillary thyroid carcinoma, tumor stage, tumor size, and early onset of tumor: A case control study. Maruei-Milan R et al. 2019 Journal of cellular physiology
30691044 Association of the MDM2 SNP285 and SNP309 Genetic Variants with the Risk, Age at Onset and Prognosis of Breast Cancer in Central European Women: A Hospital-Based Case-Control Study. Miedl H et al. 2019 International journal of molecular sciences
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
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
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
31211452 Long telomeres cooperate with p53, MDM2, and p21 polymorphisms to raise pediatric solid tumor risk. Borbora D et al. 2019 Pediatrics international
31326197 Association of MDM2 gene SNP 309 polymorphism and human non-small cell lung cancer susceptibility: A meta-analysis. Luan L et al. 2019 Pathology, research and practice
31350972 Association of PIK3CA and MDM2 SNP309 with Cervical Squamous Cell Carcinoma in a Philippine Population. Tantengco OAG et al. 2019 Asian Pacific journal of cancer prevention
31424672 Significant association between MDM2 T309G polymorphism and colorectal cancer. Atabey M et al. 2019 Journal of B.U.ON.
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
31653152 Association of Mouse Double Minute 2 -309T>G Polymorphism with Acute Myeloid Leukemia in an Iranian Population: A Case- Control Study. Soleymannejad M et al. 2019 Asian Pacific journal of cancer prevention
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
31935498 A comprehensive evaluation of single nucleotide polymorphisms associated with hepatocellular carcinoma risk in Asian populations: A systematic review and network meta-analysis. Zhang C et al. 2020 Gene
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
32066633 Association between genetic polymorphisms and endometrial cancer risk: a systematic review. Bafligil C et al. 2020 Journal of medical genetics
32354891 Association of Murine Double Minute 2 Genotypes and Lung Cancer Risk. Lin YC et al. 2020 In vivo (Athens, Greece)
32392664 A cohort study on the association of MDM2 SNP309 with lung cancer risk in Bangladeshi population. Reza HA et al. 2020 The Korean journal of internal medicine
32424731 Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects. Salemi M et al. 2020 Human cell
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
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
33109563 Association of MDM2 T309G (rs2279744) Polymorphism and Expression Changes With Risk of Prostate Cancer in the Slovak Population. Sivonova MK et al. 2020 Anticancer research
33262486 Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. 2020 European journal of human genetics
33669778 Associations of MDM2 and MDM4 Polymorphisms with Early-Stage Breast Cancer. Bartnykaitė A et al. 2021 Journal of clinical medicine
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
34257965 Association of Murine Double Minute 2 polymorphisms with gastric cancer: A systematic review with meta-analysis. Timóteo M et al. 2021 Biomedical reports
34540891 Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk. Li X et al. 2021 Frontiers in molecular biosciences
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
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
Help

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

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Select flank length:

Genomic regions, transcripts, and products
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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.

Software version is: 2.0.1.post825+45319f0