Name: rs682632
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.

rs682632

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:27183465 (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: A>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.022917 (6066/264690, TOPMED)
A=0.035583 (8249/231824, ALFA)
A=0.01061 (835/78696, PAGE_STUDY) (+ 22 more)
A=0.00000 (0/16760, 8.3KJPN)
A=0.02730 (355/13006, GO-ESP)
A=0.0095 (61/6404, 1000G_30x)
A=0.0102 (51/5008, 1000G)
A=0.0359 (161/4480, Estonian)
A=0.0319 (123/3854, ALSPAC)
A=0.0386 (143/3708, TWINSUK)
A=0.0000 (0/2930, KOREAN)
G=0.0000 (0/2930, KOREAN)
T=0.0000 (0/2930, KOREAN)
A=0.0000 (0/1832, Korea1K)
A=0.0176 (20/1134, Daghestan)
A=0.040 (40/998, GoNL)
A=0.019 (17/876, HapMap)
A=0.000 (0/792, PRJEB37584)
A=0.002 (1/614, Vietnamese)
A=0.053 (32/600, NorthernSweden)
A=0.005 (3/558, SGDP_PRJ)
A=0.049 (26/534, MGP)
A=0.014 (3/216, Qatari)
A=0.04 (2/56, Siberian)
A=0.03 (1/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TEK : Missense 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	248054	A=0.035045	C=0.964955, T=0.000000
European	Sub	208748	A=0.038693	C=0.961307, T=0.000000
African	Sub	11672	A=0.00831	C=0.99169, T=0.00000
African Others	Sub	392	A=0.005	C=0.995, T=0.000
African American	Sub	11280	A=0.00842	C=0.99158, T=0.00000
Asian	Sub	6358	A=0.0000	C=1.0000, T=0.0000
East Asian	Sub	4500	A=0.0000	C=1.0000, T=0.0000
Other Asian	Sub	1858	A=0.0000	C=1.0000, T=0.0000
Latin American 1	Sub	754	A=0.029	C=0.971, T=0.000
Latin American 2	Sub	646	A=0.020	C=0.980, T=0.000
South Asian	Sub	216	A=0.014	C=0.986, T=0.000
Other	Sub	19660	A=0.02447	C=0.97553, T=0.00000

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.022917	C=0.977083
Allele Frequency Aggregator	Total	Global	231824	A=0.035583	C=0.964417, T=0.000000
Allele Frequency Aggregator	European	Sub	198798	A=0.038758	C=0.961242, T=0.000000
Allele Frequency Aggregator	Other	Sub	18218	A=0.02459	C=0.97541, T=0.00000
Allele Frequency Aggregator	African	Sub	6834	A=0.0085	C=0.9915, T=0.0000
Allele Frequency Aggregator	Asian	Sub	6358	A=0.0000	C=1.0000, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	754	A=0.029	C=0.971, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	646	A=0.020	C=0.980, T=0.000
Allele Frequency Aggregator	South Asian	Sub	216	A=0.014	C=0.986, T=0.000
The PAGE Study	Global	Study-wide	78696	A=0.01061	C=0.98939
The PAGE Study	AfricanAmerican	Sub	32516	A=0.00710	C=0.99290
The PAGE Study	Mexican	Sub	10810	A=0.01249	C=0.98751
The PAGE Study	Asian	Sub	8314	A=0.0004	C=0.9996
The PAGE Study	PuertoRican	Sub	7916	A=0.0200	C=0.9800
The PAGE Study	NativeHawaiian	Sub	4534	A=0.0090	C=0.9910
The PAGE Study	Cuban	Sub	4230	A=0.0189	C=0.9811
The PAGE Study	Dominican	Sub	3828	A=0.0199	C=0.9801
The PAGE Study	CentralAmerican	Sub	2450	A=0.0127	C=0.9873
The PAGE Study	SouthAmerican	Sub	1982	A=0.0172	C=0.9828
The PAGE Study	NativeAmerican	Sub	1260	A=0.0254	C=0.9746
The PAGE Study	SouthAsian	Sub	856	A=0.016	C=0.984
8.3KJPN	JAPANESE	Study-wide	16760	A=0.00000	C=1.00000
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.02730	C=0.97270
GO Exome Sequencing Project	European American	Sub	8600	A=0.0380	C=0.9620
GO Exome Sequencing Project	African American	Sub	4406	A=0.0064	C=0.9936
1000Genomes_30x	Global	Study-wide	6404	A=0.0095	C=0.9905
1000Genomes_30x	African	Sub	1786	A=0.0011	C=0.9989
1000Genomes_30x	Europe	Sub	1266	A=0.0308	C=0.9692
1000Genomes_30x	South Asian	Sub	1202	A=0.0033	C=0.9967
1000Genomes_30x	East Asian	Sub	1170	A=0.0009	C=0.9991
1000Genomes_30x	American	Sub	980	A=0.015	C=0.985
1000Genomes	Global	Study-wide	5008	A=0.0102	C=0.9898
1000Genomes	African	Sub	1322	A=0.0015	C=0.9985
1000Genomes	East Asian	Sub	1008	A=0.0010	C=0.9990
1000Genomes	Europe	Sub	1006	A=0.0338	C=0.9662
1000Genomes	South Asian	Sub	978	A=0.004	C=0.996
1000Genomes	American	Sub	694	A=0.014	C=0.986
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.0359	C=0.9641
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.0319	C=0.9681
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.0386	C=0.9614
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0000	C=1.0000, G=0.0000, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0000	C=1.0000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	A=0.0176	C=0.9824
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.019	C=0.981
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	A=0.014	C=0.986
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.025	C=0.975
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.028	C=0.972
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.00	C=1.00
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.00	C=1.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.040	C=0.960
HapMap	Global	Study-wide	876	A=0.019	C=0.981
HapMap	American	Sub	496	A=0.026	C=0.974
HapMap	Europe	Sub	172	A=0.023	C=0.977
HapMap	African	Sub	120	A=0.000	C=1.000
HapMap	Asian	Sub	88	A=0.00	C=1.00
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.000	C=1.000
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.000	C=1.000
A Vietnamese Genetic Variation Database	Global	Study-wide	614	A=0.002	C=0.998
Northern Sweden	ACPOP	Study-wide	600	A=0.053	C=0.947
SGDP_PRJ	Global	Study-wide	558	A=0.005	C=0.995
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.049	C=0.951
Qatari	Global	Study-wide	216	A=0.014	C=0.986
Siberian	Global	Study-wide	56	A=0.04	C=0.96
The Danish reference pan genome	Danish	Study-wide	40	A=0.03	C=0.97

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 9	NC_000009.12:g.27183465A>C
GRCh38.p14 chr 9	NC_000009.12:g.27183465A>G
GRCh38.p14 chr 9	NC_000009.12:g.27183465A>T
GRCh37.p13 chr 9	NC_000009.11:g.27183463A>C
GRCh37.p13 chr 9	NC_000009.11:g.27183463A>G
GRCh37.p13 chr 9	NC_000009.11:g.27183463A>T
TEK RefSeqGene	NG_011828.1:g.79317C>A
TEK RefSeqGene	NG_011828.1:g.79317C>G
TEK RefSeqGene	NG_011828.1:g.79317C>T

Gene: TEK, TEK receptor tyrosine kinase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TEK transcript variant 2	NM_001290077.1:c.908C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 2 precursor	NP_001277006.1:p.Pro303Gln	P (Pro) > Q (Gln)	Missense Variant
TEK transcript variant 2	NM_001290077.1:c.908C>G	P [CCG] > R [CGG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 2 precursor	NP_001277006.1:p.Pro303Arg	P (Pro) > R (Arg)	Missense Variant
TEK transcript variant 2	NM_001290077.1:c.908C>T	P [CCG] > L [CTG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 2 precursor	NP_001277006.1:p.Pro303Leu	P (Pro) > L (Leu)	Missense Variant
TEK transcript variant 3	NM_001290078.1:c.596C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 3 precursor	NP_001277007.1:p.Pro199Gln	P (Pro) > Q (Gln)	Missense Variant
TEK transcript variant 3	NM_001290078.1:c.596C>G	P [CCG] > R [CGG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 3 precursor	NP_001277007.1:p.Pro199Arg	P (Pro) > R (Arg)	Missense Variant
TEK transcript variant 3	NM_001290078.1:c.596C>T	P [CCG] > L [CTG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 3 precursor	NP_001277007.1:p.Pro199Leu	P (Pro) > L (Leu)	Missense Variant
TEK transcript variant 4	NM_001375475.1:c.1037A>C	Q [CAG] > P [CCG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 4 precursor	NP_001362404.1:p.Gln346Pro	Q (Gln) > P (Pro)	Missense Variant
TEK transcript variant 4	NM_001375475.1:c.1037A>G	Q [CAG] > R [CGG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 4 precursor	NP_001362404.1:p.Gln346Arg	Q (Gln) > R (Arg)	Missense Variant
TEK transcript variant 4	NM_001375475.1:c.1037A>T	Q [CAG] > L [CTG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 4 precursor	NP_001362404.1:p.Gln346Leu	Q (Gln) > L (Leu)	Missense Variant
TEK transcript variant 5	NM_001375476.1:c.908A>C	Q [CAG] > P [CCG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 5 precursor	NP_001362405.1:p.Gln303Pro	Q (Gln) > P (Pro)	Missense Variant
TEK transcript variant 5	NM_001375476.1:c.908A>G	Q [CAG] > R [CGG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 5 precursor	NP_001362405.1:p.Gln303Arg	Q (Gln) > R (Arg)	Missense Variant
TEK transcript variant 5	NM_001375476.1:c.908A>T	Q [CAG] > L [CTG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 5 precursor	NP_001362405.1:p.Gln303Leu	Q (Gln) > L (Leu)	Missense Variant
TEK transcript variant 1	NM_000459.5:c.1037A>C	Q [CAG] > P [CCG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 1 precursor	NP_000450.3:p.Gln346Pro	Q (Gln) > P (Pro)	Missense Variant
TEK transcript variant 1	NM_000459.5:c.1037A>G	Q [CAG] > R [CGG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 1 precursor	NP_000450.3:p.Gln346Arg	Q (Gln) > R (Arg)	Missense Variant
TEK transcript variant 1	NM_000459.5:c.1037A>T	Q [CAG] > L [CTG]	Coding Sequence Variant
angiopoietin-1 receptor isoform 1 precursor	NP_000450.3:p.Gln346Leu	Q (Gln) > L (Leu)	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: C (allele ID: 1274479 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001700881.4	not specified	Benign
RCV001838812.3	Multiple cutaneous and mucosal venous malformations	Benign
RCV001838813.3	Glaucoma 3, primary congenital, E	Benign
RCV002073283.3	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	A=	C	G	T
GRCh38.p14 chr 9	NC_000009.12:g.27183465=	NC_000009.12:g.27183465A>C	NC_000009.12:g.27183465A>G	NC_000009.12:g.27183465A>T
GRCh37.p13 chr 9	NC_000009.11:g.27183463=	NC_000009.11:g.27183463A>C	NC_000009.11:g.27183463A>G	NC_000009.11:g.27183463A>T
TEK RefSeqGene	NG_011828.1:g.79317C>A	NG_011828.1:g.79317=	NG_011828.1:g.79317C>G	NG_011828.1:g.79317C>T
TEK transcript variant 1	NM_000459.5:c.1037=	NM_000459.5:c.1037A>C	NM_000459.5:c.1037A>G	NM_000459.5:c.1037A>T
TEK transcript variant 1	NM_000459.4:c.1037C>A	NM_000459.4:c.1037=	NM_000459.4:c.1037C>G	NM_000459.4:c.1037C>T
TEK transcript	NM_000459.3:c.1037C>A	NM_000459.3:c.1037=	NM_000459.3:c.1037C>G	NM_000459.3:c.1037C>T
TEK transcript variant 2	NM_001290077.1:c.908C>A	NM_001290077.1:c.908=	NM_001290077.1:c.908C>G	NM_001290077.1:c.908C>T
TEK transcript variant 4	NM_001375475.1:c.1037=	NM_001375475.1:c.1037A>C	NM_001375475.1:c.1037A>G	NM_001375475.1:c.1037A>T
TEK transcript variant 3	NM_001290078.1:c.596C>A	NM_001290078.1:c.596=	NM_001290078.1:c.596C>G	NM_001290078.1:c.596C>T
TEK transcript variant 5	NM_001375476.1:c.908=	NM_001375476.1:c.908A>C	NM_001375476.1:c.908A>G	NM_001375476.1:c.908A>T
angiopoietin-1 receptor isoform 1 precursor	NP_000450.3:p.Gln346=	NP_000450.3:p.Gln346Pro	NP_000450.3:p.Gln346Arg	NP_000450.3:p.Gln346Leu
angiopoietin-1 receptor isoform 2 precursor	NP_001277006.1:p.Pro303Gln	NP_001277006.1:p.Pro303=	NP_001277006.1:p.Pro303Arg	NP_001277006.1:p.Pro303Leu
angiopoietin-1 receptor isoform 4 precursor	NP_001362404.1:p.Gln346=	NP_001362404.1:p.Gln346Pro	NP_001362404.1:p.Gln346Arg	NP_001362404.1:p.Gln346Leu
angiopoietin-1 receptor isoform 3 precursor	NP_001277007.1:p.Pro199Gln	NP_001277007.1:p.Pro199=	NP_001277007.1:p.Pro199Arg	NP_001277007.1:p.Pro199Leu
angiopoietin-1 receptor isoform 5 precursor	NP_001362405.1:p.Gln303=	NP_001362405.1:p.Gln303Pro	NP_001362405.1:p.Gln303Arg	NP_001362405.1:p.Gln303Leu
angiopoietin-1 receptor isoform 1 precursor	NP_000450.2:p.Pro346Gln	NP_000450.2:p.Pro346=	NP_000450.2:p.Pro346Arg	NP_000450.2:p.Pro346Leu

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#.

160 SubSNP, 31 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss856237	Aug 11, 2000 (83)
2	KWOK	ss1651479	Oct 18, 2000 (87)
3	SC_JCM	ss3936560	Sep 28, 2001 (100)
4	WI_SSAHASNP	ss6741704	Feb 20, 2003 (111)
5	WI_SSAHASNP	ss12014244	Jul 11, 2003 (116)
6	SC_SNP	ss12930647	Dec 05, 2003 (119)
7	SC_SNP	ss15849861	Feb 27, 2004 (120)
8	CSHL-HAPMAP	ss17248939	Feb 27, 2004 (120)
9	SSAHASNP	ss22823613	Apr 05, 2004 (121)
10	PERLEGEN	ss24692582	Sep 20, 2004 (126)
11	CANCER-GENOME	ss48534286	Mar 11, 2006 (126)
12	SHGC	ss71640683	May 17, 2007 (127)
13	AFFY	ss74810097	Aug 16, 2007 (128)
14	ILLUMINA	ss74897808	Dec 06, 2007 (129)
15	AFFY	ss76817921	Dec 06, 2007 (129)
16	SI_EXO	ss76894961	Dec 06, 2007 (129)
17	HGSV	ss83492800	Dec 15, 2007 (130)
18	HGSV	ss83795896	Dec 15, 2007 (130)
19	BCMHGSC_JDW	ss94034957	Mar 25, 2008 (129)
20	HUMANGENOME_JCVI	ss97716138	Feb 05, 2009 (130)
21	BGI	ss105672230	Feb 05, 2009 (130)
22	1000GENOMES	ss108701352	Jan 23, 2009 (130)
23	1000GENOMES	ss114353551	Jan 25, 2009 (130)
24	ILLUMINA-UK	ss115715636	Feb 14, 2009 (130)
25	KRIBB_YJKIM	ss119362707	Dec 01, 2009 (131)
26	ENSEMBL	ss134170603	Dec 01, 2009 (131)
27	ENSEMBL	ss144037975	Dec 01, 2009 (131)
28	GMI	ss157348106	Dec 01, 2009 (131)
29	SEATTLESEQ	ss159718104	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss163987763	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss164855516	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss166340154	Jul 04, 2010 (132)
33	ILLUMINA	ss174130882	Jul 04, 2010 (132)
34	BUSHMAN	ss200271237	Jul 04, 2010 (132)
35	BCM-HGSC-SUB	ss206641862	Jul 04, 2010 (132)
36	1000GENOMES	ss234779712	Jul 15, 2010 (132)
37	BL	ss254141904	May 09, 2011 (134)
38	GMI	ss280165508	May 04, 2012 (137)
39	GMI	ss285994414	Apr 25, 2013 (138)
40	PJP	ss294424558	May 09, 2011 (134)
41	NHLBI-ESP	ss342271212	May 09, 2011 (134)
42	ILLUMINA	ss480064710	May 04, 2012 (137)
43	ILLUMINA	ss485774095	May 04, 2012 (137)
44	1000GENOMES	ss490976082	May 04, 2012 (137)
45	EXOME_CHIP	ss491421456	May 04, 2012 (137)
46	CLINSEQ_SNP	ss491933992	May 04, 2012 (137)
47	ILLUMINA	ss533514451	Sep 08, 2015 (146)
48	TISHKOFF	ss561329377	Apr 25, 2013 (138)
49	SSMP	ss655765278	Apr 25, 2013 (138)
50	ILLUMINA	ss779486164	Aug 21, 2014 (142)
51	ILLUMINA	ss780875844	Sep 08, 2015 (146)
52	ILLUMINA	ss781137973	Aug 21, 2014 (142)
53	ILLUMINA	ss783561303	Sep 08, 2015 (146)
54	ILLUMINA	ss834956227	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss974470410	Aug 21, 2014 (142)
56	EVA-GONL	ss986459229	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss1067502815	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1076228647	Aug 21, 2014 (142)
59	1000GENOMES	ss1333473675	Aug 21, 2014 (142)
60	HAMMER_LAB	ss1397553165	Sep 08, 2015 (146)
61	DDI	ss1431794233	Apr 01, 2015 (144)
62	EVA_GENOME_DK	ss1583045762	Apr 01, 2015 (144)
63	EVA_DECODE	ss1596094263	Apr 01, 2015 (144)
64	EVA_UK10K_ALSPAC	ss1622547815	Apr 01, 2015 (144)
65	EVA_UK10K_TWINSUK	ss1665541848	Apr 01, 2015 (144)
66	EVA_EXAC	ss1689448212	Apr 01, 2015 (144)
67	EVA_EXAC	ss1689448213	Apr 01, 2015 (144)
68	EVA_MGP	ss1711218505	Apr 01, 2015 (144)
69	EVA_SVP	ss1713101919	Apr 01, 2015 (144)
70	ILLUMINA	ss1752773469	Sep 08, 2015 (146)
71	HAMMER_LAB	ss1805942528	Sep 08, 2015 (146)
72	ILLUMINA	ss1917835380	Feb 12, 2016 (147)
73	WEILL_CORNELL_DGM	ss1929743343	Feb 12, 2016 (147)
74	ILLUMINA	ss1946256033	Feb 12, 2016 (147)
75	ILLUMINA	ss1959175748	Feb 12, 2016 (147)
76	GENOMED	ss1971187965	Jul 19, 2016 (147)
77	JJLAB	ss2025582930	Sep 14, 2016 (149)
78	USC_VALOUEV	ss2153808517	Dec 20, 2016 (150)
79	HUMAN_LONGEVITY	ss2310575978	Dec 20, 2016 (150)
80	SYSTEMSBIOZJU	ss2627264553	Nov 08, 2017 (151)
81	ILLUMINA	ss2634855092	Nov 08, 2017 (151)
82	ILLUMINA	ss2635194520	Nov 08, 2017 (151)
83	GRF	ss2709614830	Nov 08, 2017 (151)
84	ILLUMINA	ss2711160961	Nov 08, 2017 (151)
85	GNOMAD	ss2737546758	Nov 08, 2017 (151)
86	GNOMAD	ss2748167592	Nov 08, 2017 (151)
87	GNOMAD	ss2877026178	Nov 08, 2017 (151)
88	AFFY	ss2985459141	Nov 08, 2017 (151)
89	SWEGEN	ss3004604218	Nov 08, 2017 (151)
90	ILLUMINA	ss3022920262	Nov 08, 2017 (151)
91	BIOINF_KMB_FNS_UNIBA	ss3026579927	Nov 08, 2017 (151)
92	CSHL	ss3348588106	Nov 08, 2017 (151)
93	ILLUMINA	ss3630244564	Oct 12, 2018 (152)
94	ILLUMINA	ss3630244565	Oct 12, 2018 (152)
95	ILLUMINA	ss3632748107	Oct 12, 2018 (152)
96	ILLUMINA	ss3635209252	Oct 12, 2018 (152)
97	ILLUMINA	ss3638807971	Oct 12, 2018 (152)
98	ILLUMINA	ss3640916542	Oct 12, 2018 (152)
99	ILLUMINA	ss3643735151	Oct 12, 2018 (152)
100	ILLUMINA	ss3644989354	Oct 12, 2018 (152)
101	OMUKHERJEE_ADBS	ss3646385514	Oct 12, 2018 (152)
102	URBANLAB	ss3649101634	Oct 12, 2018 (152)
103	ILLUMINA	ss3653471615	Oct 12, 2018 (152)
104	ILLUMINA	ss3654223271	Oct 12, 2018 (152)
105	EGCUT_WGS	ss3672355083	Jul 13, 2019 (153)
106	EVA_DECODE	ss3723742079	Jul 13, 2019 (153)
107	ILLUMINA	ss3726604460	Jul 13, 2019 (153)
108	ACPOP	ss3736429026	Jul 13, 2019 (153)
109	ILLUMINA	ss3744587367	Jul 13, 2019 (153)
110	ILLUMINA	ss3745509181	Jul 13, 2019 (153)
111	EVA	ss3769087447	Jul 13, 2019 (153)
112	PAGE_CC	ss3771494618	Jul 13, 2019 (153)
113	ILLUMINA	ss3773001229	Jul 13, 2019 (153)
114	PACBIO	ss3786383515	Jul 13, 2019 (153)
115	PACBIO	ss3791604743	Jul 13, 2019 (153)
116	PACBIO	ss3796486419	Jul 13, 2019 (153)
117	KHV_HUMAN_GENOMES	ss3812245716	Jul 13, 2019 (153)
118	EVA	ss3824422010	Apr 26, 2020 (154)
119	EVA	ss3825753288	Apr 26, 2020 (154)
120	EVA	ss3831606248	Apr 26, 2020 (154)
121	EVA	ss3839320342	Apr 26, 2020 (154)
122	EVA	ss3844783155	Apr 26, 2020 (154)
123	SGDP_PRJ	ss3871819541	Apr 26, 2020 (154)
124	KRGDB	ss3919482180	Apr 26, 2020 (154)
125	KOGIC	ss3965554547	Apr 26, 2020 (154)
126	EVA	ss3983901570	Apr 26, 2021 (155)
127	FSA-LAB	ss3984415301	Apr 26, 2021 (155)
128	FSA-LAB	ss3984415302	Apr 26, 2021 (155)
129	EVA	ss3984618315	Apr 26, 2021 (155)
130	EVA	ss3986045793	Apr 26, 2021 (155)
131	EVA	ss3986444017	Apr 26, 2021 (155)
132	TOPMED	ss4817654225	Apr 26, 2021 (155)
133	TOMMO_GENOMICS	ss5192706696	Apr 26, 2021 (155)
134	EVA	ss5237047827	Apr 26, 2021 (155)
135	EVA	ss5237203761	Apr 26, 2021 (155)
136	EVA	ss5237652840	Oct 16, 2022 (156)
137	1000G_HIGH_COVERAGE	ss5280283181	Oct 16, 2022 (156)
138	TRAN_CS_UWATERLOO	ss5314425100	Oct 16, 2022 (156)
139	EVA	ss5315395854	Oct 16, 2022 (156)
140	EVA	ss5386934168	Oct 16, 2022 (156)
141	HUGCELL_USP	ss5476511074	Oct 16, 2022 (156)
142	EVA	ss5509676291	Oct 16, 2022 (156)
143	1000G_HIGH_COVERAGE	ss5572319616	Oct 16, 2022 (156)
144	EVA	ss5623945605	Oct 16, 2022 (156)
145	EVA	ss5624183026	Oct 16, 2022 (156)
146	SANFORD_IMAGENETICS	ss5647189352	Oct 16, 2022 (156)
147	TOMMO_GENOMICS	ss5735930648	Oct 16, 2022 (156)
148	TOMMO_GENOMICS	ss5735930649	Oct 16, 2022 (156)
149	EVA	ss5800060096	Oct 16, 2022 (156)
150	EVA	ss5800150850	Oct 16, 2022 (156)
151	YY_MCH	ss5810463208	Oct 16, 2022 (156)
152	EVA	ss5829036863	Oct 16, 2022 (156)
153	EVA	ss5848202822	Oct 16, 2022 (156)
154	EVA	ss5848719988	Oct 16, 2022 (156)
155	EVA	ss5856728236	Oct 16, 2022 (156)
156	EVA	ss5916089059	Oct 16, 2022 (156)
157	EVA	ss5936540734	Oct 16, 2022 (156)
158	EVA	ss5976470353	Oct 16, 2022 (156)
159	EVA	ss5980547625	Oct 16, 2022 (156)
160	EVA	ss5981253610	Oct 16, 2022 (156)
161	1000Genomes	NC_000009.11 - 27183463	Oct 12, 2018 (152)
162	1000Genomes_30x	NC_000009.12 - 27183465	Oct 16, 2022 (156)
163	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 27183463	Oct 12, 2018 (152)
164	Genome-wide autozygosity in Daghestan	NC_000009.10 - 27173463	Apr 26, 2020 (154)
165	Genetic variation in the Estonian population	NC_000009.11 - 27183463	Oct 12, 2018 (152)
166	ExAC Submission ignored due to conflicting rows: Row 9567761 (NC_000009.11:27183462:A:A 3247/121400, NC_000009.11:27183462:A:C 118153/121400) Row 9567762 (NC_000009.11:27183462:A:A 121399/121400, NC_000009.11:27183462:A:T 1/121400)	-	Oct 12, 2018 (152)
167	ExAC Submission ignored due to conflicting rows: Row 9567761 (NC_000009.11:27183462:A:A 3247/121400, NC_000009.11:27183462:A:C 118153/121400) Row 9567762 (NC_000009.11:27183462:A:A 121399/121400, NC_000009.11:27183462:A:T 1/121400)	-	Oct 12, 2018 (152)
168	The Danish reference pan genome	NC_000009.11 - 27183463	Apr 26, 2020 (154)
169	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322220515 (NC_000009.12:27183464:A:C 136791/140198) Row 322220516 (NC_000009.12:27183464:A:T 5/140204)	-	Apr 26, 2021 (155)
170	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322220515 (NC_000009.12:27183464:A:C 136791/140198) Row 322220516 (NC_000009.12:27183464:A:T 5/140204)	-	Apr 26, 2021 (155)
171	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6728311 (NC_000009.11:27183462:A:A 6451/251126, NC_000009.11:27183462:A:C 244675/251126) Row 6728312 (NC_000009.11:27183462:A:A 251125/251126, NC_000009.11:27183462:A:T 1/251126)	-	Jul 13, 2019 (153)
172	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6728311 (NC_000009.11:27183462:A:A 6451/251126, NC_000009.11:27183462:A:C 244675/251126) Row 6728312 (NC_000009.11:27183462:A:A 251125/251126, NC_000009.11:27183462:A:T 1/251126)	-	Jul 13, 2019 (153)
173	GO Exome Sequencing Project	NC_000009.11 - 27183463	Oct 12, 2018 (152)
174	Genome of the Netherlands Release 5	NC_000009.11 - 27183463	Apr 26, 2020 (154)
175	HapMap	NC_000009.12 - 27183465	Apr 26, 2020 (154)
176	KOREAN population from KRGDB	NC_000009.11 - 27183463	Apr 26, 2020 (154)
177	Korean Genome Project	NC_000009.12 - 27183465	Apr 26, 2020 (154)
178	Medical Genome Project healthy controls from Spanish population	NC_000009.11 - 27183463	Apr 26, 2020 (154)
179	Northern Sweden	NC_000009.11 - 27183463	Jul 13, 2019 (153)
180	The PAGE Study	NC_000009.12 - 27183465	Jul 13, 2019 (153)
181	CNV burdens in cranial meningiomas	NC_000009.11 - 27183463	Apr 26, 2021 (155)
182	Qatari	NC_000009.11 - 27183463	Apr 26, 2020 (154)
183	SGDP_PRJ	NC_000009.11 - 27183463	Apr 26, 2020 (154)
184	Siberian	NC_000009.11 - 27183463	Apr 26, 2020 (154)
185	8.3KJPN	NC_000009.11 - 27183463	Apr 26, 2021 (155)
186	14KJPN Submission ignored due to conflicting rows: Row 69767752 (NC_000009.12:27183464:A:C 28257/28258) Row 69767753 (NC_000009.12:27183464:A:T 1/28258)	-	Oct 16, 2022 (156)
187	14KJPN Submission ignored due to conflicting rows: Row 69767752 (NC_000009.12:27183464:A:C 28257/28258) Row 69767753 (NC_000009.12:27183464:A:T 1/28258)	-	Oct 16, 2022 (156)
188	TopMed	NC_000009.12 - 27183465	Apr 26, 2021 (155)
189	UK 10K study - Twins	NC_000009.11 - 27183463	Oct 12, 2018 (152)
190	A Vietnamese Genetic Variation Database	NC_000009.11 - 27183463	Jul 13, 2019 (153)
191	ALFA	NC_000009.12 - 27183465	Apr 26, 2021 (155)
192	ClinVar	RCV001700881.4	Oct 16, 2022 (156)
193	ClinVar	RCV001838812.3	Oct 16, 2022 (156)
194	ClinVar	RCV001838813.3	Oct 16, 2022 (156)
195	ClinVar	RCV002073283.3	Oct 16, 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)
rs17695161	Mar 11, 2006 (126)
rs52820458	Sep 21, 2007 (128)
rs59271363	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83492800, ss83795896	NC_000009.9:27173462:A:C	NC_000009.12:27183464:A:C	(self)
526694, ss76817921, ss94034957, ss108701352, ss114353551, ss115715636, ss163987763, ss164855516, ss166340154, ss200271237, ss206641862, ss254141904, ss280165508, ss285994414, ss294424558, ss485774095, ss491933992, ss1397553165, ss1596094263, ss1713101919, ss2635194520, ss3643735151	NC_000009.10:27173462:A:C	NC_000009.12:27183464:A:C	(self)
45718448, 25429070, 18093331, 9210699, 879814, 11343700, 26659574, 334265, 9713891, 167760, 11785273, 23836521, 6324871, 50676003, 25429070, 5649080, ss234779712, ss342271212, ss480064710, ss490976082, ss491421456, ss533514451, ss561329377, ss655765278, ss779486164, ss780875844, ss781137973, ss783561303, ss834956227, ss974470410, ss986459229, ss1067502815, ss1076228647, ss1333473675, ss1431794233, ss1583045762, ss1622547815, ss1665541848, ss1689448212, ss1711218505, ss1752773469, ss1805942528, ss1917835380, ss1929743343, ss1946256033, ss1959175748, ss1971187965, ss2025582930, ss2153808517, ss2627264553, ss2634855092, ss2709614830, ss2711160961, ss2737546758, ss2748167592, ss2877026178, ss2985459141, ss3004604218, ss3022920262, ss3348588106, ss3630244564, ss3630244565, ss3632748107, ss3635209252, ss3638807971, ss3640916542, ss3644989354, ss3646385514, ss3653471615, ss3654223271, ss3672355083, ss3736429026, ss3744587367, ss3745509181, ss3769087447, ss3773001229, ss3786383515, ss3791604743, ss3796486419, ss3824422010, ss3825753288, ss3831606248, ss3839320342, ss3871819541, ss3919482180, ss3983901570, ss3984415301, ss3984415302, ss3984618315, ss3986045793, ss3986444017, ss5192706696, ss5315395854, ss5386934168, ss5509676291, ss5623945605, ss5624183026, ss5647189352, ss5800060096, ss5800150850, ss5829036863, ss5848202822, ss5848719988, ss5936540734, ss5976470353, ss5980547625, ss5981253610	NC_000009.11:27183462:A:C	NC_000009.12:27183464:A:C	(self)
RCV001700881.4, RCV001838812.3, RCV001838813.3, RCV002073283.3, 59845551, 3810219, 21932548, 716087, 655031786, 1558299393, ss2310575978, ss3026579927, ss3649101634, ss3723742079, ss3726604460, ss3771494618, ss3812245716, ss3844783155, ss3965554547, ss4817654225, ss5237047827, ss5237203761, ss5237652840, ss5280283181, ss5314425100, ss5476511074, ss5572319616, ss5735930648, ss5810463208, ss5856728236, ss5916089059	NC_000009.12:27183464:A:C	NC_000009.12:27183464:A:C	(self)
ss12014244, ss12930647	NT_008413.15:27173463:A:C	NC_000009.12:27183464:A:C	(self)
ss15849861, ss17248939, ss22823613	NT_008413.16:27173462:A:C	NC_000009.12:27183464:A:C	(self)
ss76894961	NT_008413.17:27173462:A:C	NC_000009.12:27183464:A:C	(self)
ss856237, ss1651479, ss3936560, ss6741704, ss24692582, ss48534286, ss71640683, ss74810097, ss74897808, ss97716138, ss105672230, ss119362707, ss134170603, ss144037975, ss157348106, ss159718104, ss174130882	NT_008413.18:27173462:A:C	NC_000009.12:27183464:A:C	(self)
26659574, ss3919482180	NC_000009.11:27183462:A:G	NC_000009.12:27183464:A:G	(self)
26659574, ss1689448213, ss2737546758, ss3919482180	NC_000009.11:27183462:A:T	NC_000009.12:27183464:A:T	(self)
1558299393, ss2310575978, ss5735930649	NC_000009.12:27183464:A:T	NC_000009.12:27183464:A: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 rs682632

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs682632