Name: rs4527
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.

rs4527

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:140015798 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.018618 (4928/264690, TOPMED)
T=0.003177 (818/257456, ALFA)
T=0.004909 (1231/250758, GnomAD_exome) (+ 16 more)
T=0.017150 (2405/140236, GnomAD)
T=0.006197 (750/121018, ExAC)
T=0.02629 (2069/78696, PAGE_STUDY)
T=0.00004 (1/28258, 14KJPN)
T=0.01999 (260/13006, GO-ESP)
T=0.0200 (128/6404, 1000G_30x)
T=0.0178 (89/5008, 1000G)
T=0.0008 (3/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
T=0.0548 (59/1076, HapMap)
T=0.003 (2/600, NorthernSweden)
T=0.002 (1/534, MGP)
T=0.022 (8/358, PharmGKB)
T=0.005 (1/216, Qatari)
C=0.5 (2/4, SGDP_PRJ)
T=0.5 (2/4, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TBXAS1 : Synonymous Variant
Publications: 0 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	273780	C=0.995960	T=0.004040	0.992205	0.000285	0.00751	32
European	Sub	237434	C=0.999440	T=0.000560	0.99888	0.0	0.00112	0
African	Sub	15674	C=0.94411	T=0.05589	0.892816	0.004594	0.10259	4
African Others	Sub	548	C=0.918	T=0.082	0.843066	0.007299	0.149635	0
African American	Sub	15126	C=0.94506	T=0.05494	0.894619	0.004496	0.100886	4
Asian	Sub	3754	C=0.9989	T=0.0011	0.997869	0.0	0.002131	0
East Asian	Sub	3056	C=0.9987	T=0.0013	0.997382	0.0	0.002618	0
Other Asian	Sub	698	C=1.000	T=0.000	1.0	0.0	0.0	N/A
Latin American 1	Sub	1180	C=0.9822	T=0.0178	0.964407	0.0	0.035593	0
Latin American 2	Sub	1284	C=0.9945	T=0.0055	0.989097	0.0	0.010903	0
South Asian	Sub	360	C=1.000	T=0.000	1.0	0.0	0.0	N/A
Other	Sub	14094	C=0.99539	T=0.00461	0.991202	0.000426	0.008372	29

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	C=0.981382	T=0.018618
Allele Frequency Aggregator	Total	Global	257456	C=0.996823	T=0.003177
Allele Frequency Aggregator	European	Sub	227368	C=0.999428	T=0.000572
Allele Frequency Aggregator	Other	Sub	12664	C=0.99581	T=0.00419
Allele Frequency Aggregator	African	Sub	10846	C=0.94440	T=0.05560
Allele Frequency Aggregator	Asian	Sub	3754	C=0.9989	T=0.0011
Allele Frequency Aggregator	Latin American 2	Sub	1284	C=0.9945	T=0.0055
Allele Frequency Aggregator	Latin American 1	Sub	1180	C=0.9822	T=0.0178
Allele Frequency Aggregator	South Asian	Sub	360	C=1.000	T=0.000
gnomAD - Exomes	Global	Study-wide	250758	C=0.995091	T=0.004909
gnomAD - Exomes	European	Sub	134716	C=0.999406	T=0.000594
gnomAD - Exomes	Asian	Sub	49004	C=0.99869	T=0.00131
gnomAD - Exomes	American	Sub	34582	C=0.99543	T=0.00457
gnomAD - Exomes	African	Sub	16246	C=0.94491	T=0.05509
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	C=0.99911	T=0.00089
gnomAD - Exomes	Other	Sub	6132	C=0.9959	T=0.0041
gnomAD - Genomes	Global	Study-wide	140236	C=0.982850	T=0.017150
gnomAD - Genomes	European	Sub	75964	C=0.99953	T=0.00047
gnomAD - Genomes	African	Sub	42002	C=0.94712	T=0.05288
gnomAD - Genomes	American	Sub	13662	C=0.99188	T=0.00812
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.9994	T=0.0006
gnomAD - Genomes	East Asian	Sub	3134	C=0.9971	T=0.0029
gnomAD - Genomes	Other	Sub	2152	C=0.9879	T=0.0121
ExAC	Global	Study-wide	121018	C=0.993803	T=0.006197
ExAC	Europe	Sub	73090	C=0.99932	T=0.00068
ExAC	Asian	Sub	25130	C=0.99904	T=0.00096
ExAC	American	Sub	11564	C=0.99559	T=0.00441
ExAC	African	Sub	10334	C=0.94029	T=0.05971
ExAC	Other	Sub	900	C=0.991	T=0.009
The PAGE Study	Global	Study-wide	78696	C=0.97371	T=0.02629
The PAGE Study	AfricanAmerican	Sub	32514	C=0.94907	T=0.05093
The PAGE Study	Mexican	Sub	10810	C=0.99556	T=0.00444
The PAGE Study	Asian	Sub	8318	C=0.9996	T=0.0004
The PAGE Study	PuertoRican	Sub	7916	C=0.9816	T=0.0184
The PAGE Study	NativeHawaiian	Sub	4532	C=0.9982	T=0.0018
The PAGE Study	Cuban	Sub	4230	C=0.9903	T=0.0097
The PAGE Study	Dominican	Sub	3828	C=0.9710	T=0.0290
The PAGE Study	CentralAmerican	Sub	2450	C=0.9869	T=0.0131
The PAGE Study	SouthAmerican	Sub	1982	C=0.9934	T=0.0066
The PAGE Study	NativeAmerican	Sub	1260	C=0.9913	T=0.0087
The PAGE Study	SouthAsian	Sub	856	C=1.000	T=0.000
14KJPN	JAPANESE	Study-wide	28258	C=0.99996	T=0.00004
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.98001	T=0.01999
GO Exome Sequencing Project	European American	Sub	8600	C=0.9991	T=0.0009
GO Exome Sequencing Project	African American	Sub	4406	C=0.9428	T=0.0572
1000Genomes_30x	Global	Study-wide	6404	C=0.9800	T=0.0200
1000Genomes_30x	African	Sub	1786	C=0.9334	T=0.0666
1000Genomes_30x	Europe	Sub	1266	C=1.0000	T=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=0.9983	T=0.0017
1000Genomes_30x	American	Sub	980	C=0.993	T=0.007
1000Genomes	Global	Study-wide	5008	C=0.9822	T=0.0178
1000Genomes	African	Sub	1322	C=0.9380	T=0.0620
1000Genomes	East Asian	Sub	1008	C=0.9990	T=0.0010
1000Genomes	Europe	Sub	1006	C=1.0000	T=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=0.991	T=0.009
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9992	T=0.0008
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9997	T=0.0003
HapMap	Global	Study-wide	1076	C=0.9452	T=0.0548
HapMap	African	Sub	692	C=0.926	T=0.074
HapMap	American	Sub	212	C=0.967	T=0.033
HapMap	Asian	Sub	172	C=0.994	T=0.006
Northern Sweden	ACPOP	Study-wide	600	C=0.997	T=0.003
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.998	T=0.002
PharmGKB Aggregated	Global	Study-wide	358	C=0.978	T=0.022
PharmGKB Aggregated	PA149913073	Sub	358	C=0.978	T=0.022
Qatari	Global	Study-wide	216	C=0.995	T=0.005
SGDP_PRJ	Global	Study-wide	4	C=0.5	T=0.5

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 7	NC_000007.14:g.140015798C>T
GRCh37.p13 chr 7	NC_000007.13:g.139715598C>T
TBXAS1 RefSeqGene (LRG_579)	NG_008422.2:g.242417C>T

Gene: TBXAS1, thromboxane A synthase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TBXAS1 transcript variant 8	NM_001366538.2:c.	N/A	Genic Downstream Transcript Variant
TBXAS1 transcript variant 1	NM_001061.7:c.1302C>T	A [GCC] > A [GCT]	Coding Sequence Variant
thromboxane-A synthase isoform 1	NP_001052.3:p.Ala434=	A (Ala) > A (Ala)	Synonymous Variant
TBXAS1 transcript variant 6	NM_001314028.4:c.1245C>T	A [GCC] > A [GCT]	Coding Sequence Variant
thromboxane-A synthase isoform 5	NP_001300957.1:p.Ala415=	A (Ala) > A (Ala)	Synonymous Variant
TBXAS1 transcript variant 3	NM_001130966.5:c.1302C>T	A [GCC] > A [GCT]	Coding Sequence Variant
thromboxane-A synthase isoform 1	NP_001124438.2:p.Ala434=	A (Ala) > A (Ala)	Synonymous Variant
TBXAS1 transcript variant 7	NM_001366537.3:c.1119C>T	A [GCC] > A [GCT]	Coding Sequence Variant
thromboxane-A synthase isoform 6	NP_001353466.1:p.Ala373=	A (Ala) > A (Ala)	Synonymous Variant
TBXAS1 transcript variant 4	NM_001166253.4:c.1440C>T	A [GCC] > A [GCT]	Coding Sequence Variant
thromboxane-A synthase isoform 3	NP_001159725.2:p.Ala480=	A (Ala) > A (Ala)	Synonymous Variant
TBXAS1 transcript variant 2	NM_030984.6:c.1302C>T	A [GCC] > A [GCT]	Coding Sequence Variant
thromboxane-A synthase isoform 2	NP_112246.3:p.Ala434=	A (Ala) > A (Ala)	Synonymous Variant
TBXAS1 transcript variant 5	NM_001166254.4:c.1101C>T	A [GCC] > A [GCT]	Coding Sequence Variant
thromboxane-A synthase isoform 4	NP_001159726.1:p.Ala367=	A (Ala) > A (Ala)	Synonymous Variant
TBXAS1 transcript variant 9	NR_159363.1:n.	N/A	Genic Downstream Transcript Variant
TBXAS1 transcript variant 10	NR_159364.1:n.	N/A	Genic Downstream Transcript Variant
TBXAS1 transcript variant 11	NR_159365.1:n.	N/A	Genic Downstream Transcript Variant
TBXAS1 transcript variant X1	XM_011516544.4:c.1305C>T	A [GCC] > A [GCT]	Coding Sequence Variant
thromboxane-A synthase isoform X1	XP_011514846.1:p.Ala435=	A (Ala) > A (Ala)	Synonymous 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: T (allele ID: 699881 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000955384.5	not provided	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	C=	T
GRCh38.p14 chr 7	NC_000007.14:g.140015798=	NC_000007.14:g.140015798C>T
GRCh37.p13 chr 7	NC_000007.13:g.139715598=	NC_000007.13:g.139715598C>T
TBXAS1 RefSeqGene (LRG_579)	NG_008422.2:g.242417=	NG_008422.2:g.242417C>T
TBXAS1 transcript variant 1	NM_001061.7:c.1302=	NM_001061.7:c.1302C>T
TBXAS1 transcript variant 1	NM_001061.6:c.1302=	NM_001061.6:c.1302C>T
TBXAS1 transcript variant 1	NM_001061.5:c.1302=	NM_001061.5:c.1302C>T
TBXAS1 transcript variant 1	NM_001061.4:c.1305=	NM_001061.4:c.1305C>T
TBXAS1 transcript variant 2	NM_030984.6:c.1302=	NM_030984.6:c.1302C>T
TBXAS1 transcript variant 2	NM_030984.5:c.1302=	NM_030984.5:c.1302C>T
TBXAS1 transcript variant 2	NM_030984.4:c.1302=	NM_030984.4:c.1302C>T
TBXAS1 transcript variant 2	NM_030984.3:c.1305=	NM_030984.3:c.1305C>T
TBXAS1 transcript variant 3	NM_001130966.5:c.1302=	NM_001130966.5:c.1302C>T
TBXAS1 transcript variant 3	NM_001130966.4:c.1302=	NM_001130966.4:c.1302C>T
TBXAS1 transcript variant 3	NM_001130966.3:c.1302=	NM_001130966.3:c.1302C>T
TBXAS1 transcript variant 3	NM_001130966.2:c.1305=	NM_001130966.2:c.1305C>T
TBXAS1 transcript variant 5	NM_001166254.4:c.1101=	NM_001166254.4:c.1101C>T
TBXAS1 transcript variant 5	NM_001166254.3:c.1101=	NM_001166254.3:c.1101C>T
TBXAS1 transcript variant 5	NM_001166254.2:c.1101=	NM_001166254.2:c.1101C>T
TBXAS1 transcript variant 5	NM_001166254.1:c.1101=	NM_001166254.1:c.1101C>T
TBXAS1 transcript variant 4	NM_001166253.4:c.1440=	NM_001166253.4:c.1440C>T
TBXAS1 transcript variant 4	NM_001166253.3:c.1440=	NM_001166253.3:c.1440C>T
TBXAS1 transcript variant 4	NM_001166253.2:c.1440=	NM_001166253.2:c.1440C>T
TBXAS1 transcript variant 4	NM_001166253.1:c.1443=	NM_001166253.1:c.1443C>T
TBXAS1 transcript variant 6	NM_001314028.4:c.1245=	NM_001314028.4:c.1245C>T
TBXAS1 transcript variant 6	NM_001314028.3:c.1245=	NM_001314028.3:c.1245C>T
TBXAS1 transcript variant 6	NM_001314028.2:c.1245=	NM_001314028.2:c.1245C>T
TBXAS1 transcript variant 6	NM_001314028.1:c.1245=	NM_001314028.1:c.1245C>T
TBXAS1 transcript variant 7	NM_001366537.3:c.1119=	NM_001366537.3:c.1119C>T
TBXAS1 transcript variant 7	NM_001366537.2:c.1119=	NM_001366537.2:c.1119C>T
TBXAS1 transcript variant 7	NM_001366537.1:c.1119=	NM_001366537.1:c.1119C>T
TBXAS1 transcript variant X1	XM_011516544.4:c.1305=	XM_011516544.4:c.1305C>T
TBXAS1 transcript variant X2	XM_011516544.3:c.1305=	XM_011516544.3:c.1305C>T
TBXAS1 transcript variant X2	XM_011516544.2:c.1305=	XM_011516544.2:c.1305C>T
TBXAS1 transcript variant X1	XM_011516544.1:c.1305=	XM_011516544.1:c.1305C>T
TBXAS1 transcript variant 6	NR_029394.1:n.1569=	NR_029394.1:n.1569C>T
thromboxane-A synthase isoform 1	NP_001052.3:p.Ala434=	NP_001052.3:p.Ala434=
thromboxane-A synthase isoform 2	NP_112246.3:p.Ala434=	NP_112246.3:p.Ala434=
thromboxane-A synthase isoform 1	NP_001124438.2:p.Ala434=	NP_001124438.2:p.Ala434=
thromboxane-A synthase isoform 4	NP_001159726.1:p.Ala367=	NP_001159726.1:p.Ala367=
thromboxane-A synthase isoform 3	NP_001159725.2:p.Ala480=	NP_001159725.2:p.Ala480=
thromboxane-A synthase isoform 5	NP_001300957.1:p.Ala415=	NP_001300957.1:p.Ala415=
thromboxane-A synthase isoform 6	NP_001353466.1:p.Ala373=	NP_001353466.1:p.Ala373=
thromboxane-A synthase isoform X1	XP_011514846.1:p.Ala435=	XP_011514846.1:p.Ala435=
thromboxane-A synthase isoform 1	NP_001052.2:p.Ala435=	NP_001052.2:p.Ala435=
thromboxane-A synthase isoform 1	NP_001124438.1:p.Ala435=	NP_001124438.1:p.Ala435=
thromboxane-A synthase isoform 3	NP_001159725.1:p.Ala481=	NP_001159725.1:p.Ala481=
thromboxane-A synthase isoform 2	NP_112246.2:p.Ala435=	NP_112246.2:p.Ala435=

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#.

92 SubSNP, 18 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ARAVINDA	ss7235	Sep 19, 2000 (52)
2	WIAF-CSNP	ss7758	Sep 19, 2000 (52)
3	PERLEGEN	ss23537410	Sep 20, 2004 (123)
4	ILLUMINA	ss75273175	Dec 06, 2007 (129)
5	HGSV	ss80135238	Dec 14, 2007 (130)
6	PHARMGKB_AB_DME	ss84164548	Dec 14, 2007 (130)
7	SNP500CANCER	ss105439592	Feb 04, 2009 (130)
8	ILLUMINA-UK	ss116343852	Feb 14, 2009 (130)
9	KRIBB_YJKIM	ss119337404	Dec 01, 2009 (131)
10	SEATTLESEQ	ss159715842	Dec 01, 2009 (131)
11	ILLUMINA	ss160685027	Dec 01, 2009 (131)
12	ILLUMINA	ss173747608	Jul 04, 2010 (132)
13	1000GENOMES	ss223369525	Jul 14, 2010 (132)
14	ILLUMINA	ss244300075	Jul 04, 2010 (132)
15	NHLBI-ESP	ss342248105	May 09, 2011 (134)
16	ILLUMINA	ss480401274	May 04, 2012 (137)
17	ILLUMINA	ss480963479	May 04, 2012 (137)
18	ILLUMINA	ss480983437	May 04, 2012 (137)
19	ILLUMINA	ss481954277	Sep 08, 2015 (146)
20	ILLUMINA	ss485276653	May 04, 2012 (137)
21	ILLUMINA	ss485362087	May 04, 2012 (137)
22	1000GENOMES	ss490955488	May 04, 2012 (137)
23	CLINSEQ_SNP	ss491916084	May 04, 2012 (137)
24	ILLUMINA	ss533720004	Sep 08, 2015 (146)
25	TISHKOFF	ss560348249	Apr 25, 2013 (138)
26	ILLUMINA	ss779081376	Sep 08, 2015 (146)
27	ILLUMINA	ss781222092	Sep 08, 2015 (146)
28	ILLUMINA	ss783084251	Sep 08, 2015 (146)
29	ILLUMINA	ss832342622	Sep 08, 2015 (146)
30	ILLUMINA	ss834545106	Sep 08, 2015 (146)
31	1000GENOMES	ss1327434319	Aug 21, 2014 (142)
32	EVA_UK10K_ALSPAC	ss1619377643	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1662371676	Apr 01, 2015 (144)
34	EVA_EXAC	ss1688974807	Apr 01, 2015 (144)
35	EVA_MGP	ss1711182154	Apr 01, 2015 (144)
36	ILLUMINA	ss1752667641	Sep 08, 2015 (146)
37	WEILL_CORNELL_DGM	ss1928133425	Feb 12, 2016 (147)
38	ILLUMINA	ss1946222469	Feb 12, 2016 (147)
39	ILLUMINA	ss1959057175	Feb 12, 2016 (147)
40	HUMAN_LONGEVITY	ss2298480201	Dec 20, 2016 (150)
41	ILLUMINA	ss2634669499	Nov 08, 2017 (151)
42	ILLUMINA	ss2634669500	Nov 08, 2017 (151)
43	ILLUMINA	ss2711122877	Nov 08, 2017 (151)
44	GNOMAD	ss2736811516	Nov 08, 2017 (151)
45	GNOMAD	ss2747937247	Nov 08, 2017 (151)
46	GNOMAD	ss2859961797	Nov 08, 2017 (151)
47	AFFY	ss2985422656	Nov 08, 2017 (151)
48	AFFY	ss2986054414	Nov 08, 2017 (151)
49	SWEGEN	ss3002157028	Nov 08, 2017 (151)
50	ILLUMINA	ss3022785945	Nov 08, 2017 (151)
51	ILLUMINA	ss3625939887	Oct 12, 2018 (152)
52	ILLUMINA	ss3629930266	Oct 12, 2018 (152)
53	ILLUMINA	ss3632573248	Oct 12, 2018 (152)
54	ILLUMINA	ss3633480481	Oct 12, 2018 (152)
55	ILLUMINA	ss3634206231	Oct 12, 2018 (152)
56	ILLUMINA	ss3635144950	Oct 12, 2018 (152)
57	ILLUMINA	ss3635885590	Oct 12, 2018 (152)
58	ILLUMINA	ss3636879996	Oct 12, 2018 (152)
59	ILLUMINA	ss3637638643	Oct 12, 2018 (152)
60	ILLUMINA	ss3638727953	Oct 12, 2018 (152)
61	ILLUMINA	ss3640852242	Oct 12, 2018 (152)
62	ILLUMINA	ss3643661404	Oct 12, 2018 (152)
63	ILLUMINA	ss3644955626	Oct 12, 2018 (152)
64	ILLUMINA	ss3653321849	Oct 12, 2018 (152)
65	ILLUMINA	ss3654183909	Oct 12, 2018 (152)
66	EVA_DECODE	ss3720841124	Jul 14, 2019 (153)
67	ILLUMINA	ss3726487779	Jul 14, 2019 (153)
68	ACPOP	ss3735137229	Jul 14, 2019 (153)
69	ILLUMINA	ss3744297380	Jul 14, 2019 (153)
70	ILLUMINA	ss3745444915	Jul 14, 2019 (153)
71	EVA	ss3767252431	Jul 14, 2019 (153)
72	PAGE_CC	ss3771403329	Jul 14, 2019 (153)
73	ILLUMINA	ss3772937639	Jul 14, 2019 (153)
74	KHV_HUMAN_GENOMES	ss3810418813	Jul 14, 2019 (153)
75	EVA	ss3824323754	Apr 26, 2020 (154)
76	EVA	ss3825730220	Apr 26, 2020 (154)
77	SGDP_PRJ	ss3868551850	Apr 26, 2020 (154)
78	EVA	ss3986402044	Apr 26, 2021 (155)
79	EVA	ss4017362986	Apr 26, 2021 (155)
80	TOPMED	ss4766381918	Apr 26, 2021 (155)
81	EVA	ss5237037870	Apr 26, 2021 (155)
82	1000G_HIGH_COVERAGE	ss5275003788	Oct 13, 2022 (156)
83	TRAN_CS_UWATERLOO	ss5314421520	Oct 13, 2022 (156)
84	EVA	ss5377264301	Oct 13, 2022 (156)
85	HUGCELL_USP	ss5471862613	Oct 13, 2022 (156)
86	1000G_HIGH_COVERAGE	ss5564293115	Oct 13, 2022 (156)
87	SANFORD_IMAGENETICS	ss5644136612	Oct 13, 2022 (156)
88	TOMMO_GENOMICS	ss5727026708	Oct 13, 2022 (156)
89	EVA	ss5848156375	Oct 13, 2022 (156)
90	EVA	ss5848694500	Oct 13, 2022 (156)
91	EVA	ss5861190231	Oct 13, 2022 (156)
92	EVA	ss5973341682	Oct 13, 2022 (156)
93	1000Genomes	NC_000007.13 - 139715598	Oct 12, 2018 (152)
94	1000Genomes_30x	NC_000007.14 - 140015798	Oct 13, 2022 (156)
95	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 139715598	Oct 12, 2018 (152)
96	ExAC	NC_000007.13 - 139715598	Oct 12, 2018 (152)
97	gnomAD - Genomes	NC_000007.14 - 140015798	Apr 26, 2021 (155)
98	gnomAD - Exomes	NC_000007.13 - 139715598	Jul 14, 2019 (153)
99	GO Exome Sequencing Project	NC_000007.13 - 139715598	Oct 12, 2018 (152)
100	HapMap	NC_000007.14 - 140015798	Apr 26, 2020 (154)
101	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 139715598	Apr 26, 2020 (154)
102	Northern Sweden	NC_000007.13 - 139715598	Jul 14, 2019 (153)
103	The PAGE Study	NC_000007.14 - 140015798	Jul 14, 2019 (153)
104	PharmGKB Aggregated	NC_000007.14 - 140015798	Apr 26, 2020 (154)
105	Qatari	NC_000007.13 - 139715598	Apr 26, 2020 (154)
106	SGDP_PRJ	NC_000007.13 - 139715598	Apr 26, 2020 (154)
107	14KJPN	NC_000007.14 - 140015798	Oct 13, 2022 (156)
108	TopMed	NC_000007.14 - 140015798	Apr 26, 2021 (155)
109	UK 10K study - Twins	NC_000007.13 - 139715598	Oct 12, 2018 (152)
110	ALFA	NC_000007.14 - 140015798	Apr 26, 2021 (155)
111	ClinVar	RCV000955384.5	Oct 13, 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)
rs17161343	Oct 08, 2004 (123)
rs58125313	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80135238	NC_000007.11:139168781:C:T	NC_000007.14:140015797:C:T	(self)
ss116343852, ss480963479, ss485362087, ss491916084, ss3643661404	NC_000007.12:139362066:C:T	NC_000007.14:140015797:C:T	(self)
39489474, 21979481, 9059168, 5976716, 781632, 297914, 8422094, 10175355, 20568830, 21979481, ss223369525, ss342248105, ss480401274, ss480983437, ss481954277, ss485276653, ss490955488, ss533720004, ss560348249, ss779081376, ss781222092, ss783084251, ss832342622, ss834545106, ss1327434319, ss1619377643, ss1662371676, ss1688974807, ss1711182154, ss1752667641, ss1928133425, ss1946222469, ss1959057175, ss2634669499, ss2634669500, ss2711122877, ss2736811516, ss2747937247, ss2859961797, ss2985422656, ss2986054414, ss3002157028, ss3022785945, ss3625939887, ss3629930266, ss3632573248, ss3633480481, ss3634206231, ss3635144950, ss3635885590, ss3636879996, ss3637638643, ss3638727953, ss3640852242, ss3644955626, ss3653321849, ss3654183909, ss3735137229, ss3744297380, ss3745444915, ss3767252431, ss3772937639, ss3824323754, ss3825730220, ss3868551850, ss3986402044, ss4017362986, ss5377264301, ss5644136612, ss5848156375, ss5848694500, ss5973341682	NC_000007.13:139715597:C:T	NC_000007.14:140015797:C:T	(self)
RCV000955384.5, 51819050, 278855828, 3508305, 624798, 12018, 60863812, 603759477, 5234585889, ss2298480201, ss3720841124, ss3726487779, ss3771403329, ss3810418813, ss4766381918, ss5237037870, ss5275003788, ss5314421520, ss5471862613, ss5564293115, ss5727026708, ss5861190231	NC_000007.14:140015797:C:T	NC_000007.14:140015797:C:T	(self)
ss7235, ss7758, ss23537410, ss75273175, ss84164548, ss105439592, ss119337404, ss159715842, ss160685027, ss173747608, ss244300075	NT_007914.15:311220:C:T	NC_000007.14:140015797:C:T	(self)

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

No publications for rs4527

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

rs4527