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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs3763305

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32401711 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.054619 (14457/264690, TOPMED)
A=0.052007 (8399/161498, ALFA)
A=0.045821 (6417/140044, GnomAD) (+ 23 more)
A=0.07297 (5743/78702, PAGE_STUDY)
A=0.08617 (2435/28258, 14KJPN)
A=0.08538 (1431/16760, 8.3KJPN)
A=0.0557 (357/6404, 1000G_30x)
A=0.0543 (272/5008, 1000G)
A=0.0366 (167/4566, GO-ESP)
A=0.0502 (225/4480, Estonian)
A=0.0493 (190/3854, ALSPAC)
A=0.0591 (219/3708, TWINSUK)
A=0.1020 (299/2930, KOREAN)
A=0.0744 (155/2082, HGDP_Stanford)
A=0.0561 (74/1320, HapMap)
A=0.0352 (40/1136, Daghestan)
A=0.054 (54/998, GoNL)
A=0.049 (39/790, PRJEB37584)
A=0.118 (71/600, NorthernSweden)
A=0.045 (24/534, MGP)
A=0.009 (2/216, Qatari)
A=0.05 (4/74, Ancient Sardinia)
G=0.44 (29/66, SGDP_PRJ)
A=0.07 (3/40, GENOME_DK)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TSBP1-AS1 : Intron Variant
BTNL2 : Intron Variant
Publications
1 citation
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 161498 G=0.947993 A=0.052007
European Sub 135964 G=0.951090 A=0.048910
African Sub 5408 G=0.9889 A=0.0111
African Others Sub 188 G=1.000 A=0.000
African American Sub 5220 G=0.9885 A=0.0115
Asian Sub 518 G=0.917 A=0.083
East Asian Sub 440 G=0.923 A=0.077
Other Asian Sub 78 G=0.88 A=0.12
Latin American 1 Sub 388 G=0.933 A=0.067
Latin American 2 Sub 5610 G=0.8219 A=0.1781
South Asian Sub 5008 G=0.9619 A=0.0381
Other Sub 8602 G=0.9500 A=0.0500


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 G=0.945381 A=0.054619
Allele Frequency Aggregator Total Global 161498 G=0.947993 A=0.052007
Allele Frequency Aggregator European Sub 135964 G=0.951090 A=0.048910
Allele Frequency Aggregator Other Sub 8602 G=0.9500 A=0.0500
Allele Frequency Aggregator Latin American 2 Sub 5610 G=0.8219 A=0.1781
Allele Frequency Aggregator African Sub 5408 G=0.9889 A=0.0111
Allele Frequency Aggregator South Asian Sub 5008 G=0.9619 A=0.0381
Allele Frequency Aggregator Asian Sub 518 G=0.917 A=0.083
Allele Frequency Aggregator Latin American 1 Sub 388 G=0.933 A=0.067
gnomAD - Genomes Global Study-wide 140044 G=0.954179 A=0.045821
gnomAD - Genomes European Sub 75860 G=0.94946 A=0.05054
gnomAD - Genomes African Sub 41954 G=0.98851 A=0.01149
gnomAD - Genomes American Sub 13636 G=0.87262 A=0.12738
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9789 A=0.0211
gnomAD - Genomes East Asian Sub 3130 G=0.9374 A=0.0626
gnomAD - Genomes Other Sub 2142 G=0.9542 A=0.0458
The PAGE Study Global Study-wide 78702 G=0.92703 A=0.07297
The PAGE Study AfricanAmerican Sub 32516 G=0.98785 A=0.01215
The PAGE Study Mexican Sub 10810 G=0.80120 A=0.19880
The PAGE Study Asian Sub 8318 G=0.9231 A=0.0769
The PAGE Study PuertoRican Sub 7918 G=0.9213 A=0.0787
The PAGE Study NativeHawaiian Sub 4534 G=0.8937 A=0.1063
The PAGE Study Cuban Sub 4230 G=0.9478 A=0.0522
The PAGE Study Dominican Sub 3828 G=0.9551 A=0.0449
The PAGE Study CentralAmerican Sub 2450 G=0.7776 A=0.2224
The PAGE Study SouthAmerican Sub 1982 G=0.8189 A=0.1811
The PAGE Study NativeAmerican Sub 1260 G=0.9167 A=0.0833
The PAGE Study SouthAsian Sub 856 G=0.939 A=0.061
14KJPN JAPANESE Study-wide 28258 G=0.91383 A=0.08617
8.3KJPN JAPANESE Study-wide 16760 G=0.91462 A=0.08538
1000Genomes_30x Global Study-wide 6404 G=0.9443 A=0.0557
1000Genomes_30x African Sub 1786 G=0.9978 A=0.0022
1000Genomes_30x Europe Sub 1266 G=0.9400 A=0.0600
1000Genomes_30x South Asian Sub 1202 G=0.9468 A=0.0532
1000Genomes_30x East Asian Sub 1170 G=0.9564 A=0.0436
1000Genomes_30x American Sub 980 G=0.835 A=0.165
1000Genomes Global Study-wide 5008 G=0.9457 A=0.0543
1000Genomes African Sub 1322 G=0.9977 A=0.0023
1000Genomes East Asian Sub 1008 G=0.9534 A=0.0466
1000Genomes Europe Sub 1006 G=0.9443 A=0.0557
1000Genomes South Asian Sub 978 G=0.947 A=0.053
1000Genomes American Sub 694 G=0.836 A=0.164
GO Exome Sequencing Project Global Study-wide 4566 G=0.9634 A=0.0366
GO Exome Sequencing Project European American Sub 3182 G=0.9507 A=0.0493
GO Exome Sequencing Project African American Sub 1384 G=0.9928 A=0.0072
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9498 A=0.0502
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9507 A=0.0493
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9409 A=0.0591
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8980 A=0.1020
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 G=0.9256 A=0.0744
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.957 A=0.043
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.964 A=0.036
HGDP-CEPH-db Supplement 1 Middle_Est Sub 348 G=0.963 A=0.037
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.947 A=0.053
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.583 A=0.417
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1320 G=0.9439 A=0.0561
HapMap American Sub 770 G=0.929 A=0.071
HapMap Asian Sub 254 G=0.941 A=0.059
HapMap Europe Sub 176 G=0.977 A=0.023
HapMap African Sub 120 G=1.000 A=0.000
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.9648 A=0.0352
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.970 A=0.030
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.965 A=0.035
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.951 A=0.049
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.972 A=0.028
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.93 A=0.07
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.946 A=0.054
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.951 A=0.049
CNV burdens in cranial meningiomas CRM Sub 790 G=0.951 A=0.049
Northern Sweden ACPOP Study-wide 600 G=0.882 A=0.118
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.955 A=0.045
Qatari Global Study-wide 216 G=0.991 A=0.009
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 G=0.95 A=0.05
SGDP_PRJ Global Study-wide 66 G=0.44 A=0.56
The Danish reference pan genome Danish Study-wide 40 G=0.93 A=0.07
Siberian Global Study-wide 12 G=0.50 A=0.50
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 6 NC_000006.12:g.32401711G>A
GRCh37.p13 chr 6 NC_000006.11:g.32369488G>A
BTNL2 RefSeqGene NG_054759.1:g.12169C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3839788G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3839894G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.3733940G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.3683856G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3624746G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3630342G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3706727G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3712347G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3717637A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3716935A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3743465G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3749050G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3642788G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3648373G>A
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1 NT_187692.1:g.52244C>T
Gene: BTNL2, butyrophilin like 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BTNL2 transcript NM_001304561.2:c.730+74C>T N/A Intron Variant
Gene: TSBP1-AS1, TSBP1 and BTNL2 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TSBP1-AS1 transcript variant 2 NR_136245.1:n. N/A Intron Variant
TSBP1-AS1 transcript variant 1 NR_136244.1:n. N/A Genic Downstream Transcript Variant
TSBP1-AS1 transcript variant 3 NR_136246.1:n. N/A Genic Downstream 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.

Not Reported in ClinVar
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 G= A
GRCh38.p14 chr 6 NC_000006.12:g.32401711= NC_000006.12:g.32401711G>A
GRCh37.p13 chr 6 NC_000006.11:g.32369488= NC_000006.11:g.32369488G>A
BTNL2 RefSeqGene NG_054759.1:g.12169= NG_054759.1:g.12169C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3839788= NT_113891.3:g.3839788G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3839894= NT_113891.2:g.3839894G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.3733940= NT_167244.2:g.3733940G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.3683856= NT_167244.1:g.3683856G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3624746= NT_167248.2:g.3624746G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3630342= NT_167248.1:g.3630342G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3706727= NT_167246.2:g.3706727G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3712347= NT_167246.1:g.3712347G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3717637A>G NT_167249.2:g.3717637=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3716935A>G NT_167249.1:g.3716935=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3743465= NT_167247.2:g.3743465G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3749050= NT_167247.1:g.3749050G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3642788= NT_167245.2:g.3642788G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3648373= NT_167245.1:g.3648373G>A
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1 NT_187692.1:g.52244= NT_187692.1:g.52244C>T
BTNL2 transcript NM_001304561.2:c.730+74= NM_001304561.2:c.730+74C>T
BTNL2 transcript NM_019602.1:c.730+74= NM_019602.1:c.730+74C>T
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#.

118 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4949342 Aug 28, 2002 (107)
2 SI_MHC_SNP ss12693266 Oct 31, 2003 (118)
3 SC_SNP ss12889922 Dec 05, 2003 (119)
4 SC_SNP ss15724174 Feb 27, 2004 (120)
5 ILLUMINA ss66714368 Dec 02, 2006 (127)
6 ILLUMINA ss67300689 Dec 02, 2006 (127)
7 ILLUMINA ss67705437 Dec 02, 2006 (127)
8 PERLEGEN ss68972049 May 18, 2007 (127)
9 ILLUMINA ss70779323 May 24, 2008 (130)
10 ILLUMINA ss71355610 May 18, 2007 (127)
11 ILLUMINA ss75640109 Dec 06, 2007 (129)
12 ILLUMINA ss79165612 Dec 15, 2007 (130)
13 KRIBB_YJKIM ss84174165 Dec 15, 2007 (130)
14 ILLUMINA ss122213363 Dec 01, 2009 (131)
15 ILLUMINA ss154266618 Dec 01, 2009 (131)
16 ILLUMINA ss159443432 Dec 01, 2009 (131)
17 ILLUMINA ss160638330 Dec 01, 2009 (131)
18 ILLUMINA ss171637896 Jul 04, 2010 (132)
19 ILLUMINA ss173629233 Jul 04, 2010 (132)
20 1000GENOMES ss233401796 Jul 14, 2010 (137)
21 1000GENOMES ss240472546 Jul 15, 2010 (137)
22 GMI ss278730262 May 04, 2012 (137)
23 GMI ss285375465 Apr 25, 2013 (138)
24 ILLUMINA ss410930066 Sep 17, 2011 (137)
25 ILLUMINA ss480822101 May 04, 2012 (137)
26 ILLUMINA ss480837778 May 04, 2012 (137)
27 ILLUMINA ss481768088 Sep 08, 2015 (146)
28 ILLUMINA ss485205855 May 04, 2012 (137)
29 ILLUMINA ss537190585 Sep 08, 2015 (146)
30 SSMP ss653040474 Apr 25, 2013 (138)
31 NHLBI-ESP ss712701863 Apr 25, 2013 (138)
32 ILLUMINA ss778522894 Sep 08, 2015 (146)
33 ILLUMINA ss783048909 Sep 08, 2015 (146)
34 ILLUMINA ss784007547 Sep 08, 2015 (146)
35 ILLUMINA ss825496130 Apr 01, 2015 (144)
36 ILLUMINA ss832306723 Sep 08, 2015 (146)
37 ILLUMINA ss832955000 Jul 13, 2019 (153)
38 ILLUMINA ss833979326 Sep 08, 2015 (146)
39 EVA-GONL ss982773466 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1073510239 Aug 21, 2014 (142)
41 1000GENOMES ss1319578711 Aug 21, 2014 (142)
42 HAMMER_LAB ss1397450640 Sep 08, 2015 (146)
43 EVA_GENOME_DK ss1581609863 Apr 01, 2015 (144)
44 EVA_DECODE ss1592317074 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1615288819 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1658282852 Apr 01, 2015 (144)
47 EVA_MGP ss1711122818 Apr 01, 2015 (144)
48 EVA_SVP ss1712852079 Apr 01, 2015 (144)
49 ILLUMINA ss1752630759 Sep 08, 2015 (146)
50 WEILL_CORNELL_DGM ss1926025558 Feb 12, 2016 (147)
51 ILLUMINA ss1958891429 Feb 12, 2016 (147)
52 GENOMED ss1970359228 Jul 19, 2016 (147)
53 JJLAB ss2023646563 Sep 14, 2016 (149)
54 ILLUMINA ss2094825826 Dec 20, 2016 (150)
55 ILLUMINA ss2095179143 Dec 20, 2016 (150)
56 USC_VALOUEV ss2151813990 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2282982723 Dec 20, 2016 (150)
58 ILLUMINA ss2634432337 Nov 08, 2017 (151)
59 GRF ss2707408016 Nov 08, 2017 (151)
60 AFFY ss2985995624 Nov 08, 2017 (151)
61 SWEGEN ss2998807686 Nov 08, 2017 (151)
62 ILLUMINA ss3022602384 Nov 08, 2017 (151)
63 ILLUMINA ss3629508638 Oct 12, 2018 (152)
64 ILLUMINA ss3632350550 Oct 12, 2018 (152)
65 ILLUMINA ss3634138987 Oct 12, 2018 (152)
66 ILLUMINA ss3635059085 Oct 12, 2018 (152)
67 ILLUMINA ss3635819961 Oct 12, 2018 (152)
68 ILLUMINA ss3636780221 Oct 12, 2018 (152)
69 ILLUMINA ss3637572753 Oct 12, 2018 (152)
70 ILLUMINA ss3638621375 Oct 12, 2018 (152)
71 ILLUMINA ss3639311783 Oct 12, 2018 (152)
72 ILLUMINA ss3639681387 Oct 12, 2018 (152)
73 ILLUMINA ss3640766384 Oct 12, 2018 (152)
74 ILLUMINA ss3641193457 Oct 12, 2018 (152)
75 ILLUMINA ss3641490590 Oct 12, 2018 (152)
76 ILLUMINA ss3643562944 Oct 12, 2018 (152)
77 BIOINF_KMB_FNS_UNIBA ss3645944695 Oct 12, 2018 (152)
78 OMUKHERJEE_ADBS ss3646335859 Oct 12, 2018 (152)
79 ILLUMINA ss3653115573 Oct 12, 2018 (152)
80 EGCUT_WGS ss3666721006 Jul 13, 2019 (153)
81 EVA_DECODE ss3716921436 Jul 13, 2019 (153)
82 ILLUMINA ss3726332428 Jul 13, 2019 (153)
83 ACPOP ss3733368282 Jul 13, 2019 (153)
84 ILLUMINA ss3744551163 Jul 13, 2019 (153)
85 ILLUMINA ss3745359055 Jul 13, 2019 (153)
86 EVA ss3764830923 Jul 13, 2019 (153)
87 PAGE_CC ss3771281187 Jul 13, 2019 (153)
88 ILLUMINA ss3772852731 Jul 13, 2019 (153)
89 KHV_HUMAN_GENOMES ss3807985676 Jul 13, 2019 (153)
90 EVA ss3824174632 Apr 26, 2020 (154)
91 EVA ss3825695494 Apr 26, 2020 (154)
92 EVA ss3829836681 Apr 26, 2020 (154)
93 HGDP ss3847829509 Apr 26, 2020 (154)
94 SGDP_PRJ ss3864267715 Apr 26, 2020 (154)
95 KRGDB ss3911045078 Apr 26, 2020 (154)
96 EVA ss3984566272 Apr 26, 2021 (155)
97 EVA ss3985214126 Apr 26, 2021 (155)
98 EVA ss4017267542 Apr 26, 2021 (155)
99 TOPMED ss4698553465 Apr 26, 2021 (155)
100 TOMMO_GENOMICS ss5176863557 Apr 26, 2021 (155)
101 EVA ss5237395231 Apr 26, 2021 (155)
102 1000G_HIGH_COVERAGE ss5267955973 Oct 17, 2022 (156)
103 EVA ss5315143792 Oct 17, 2022 (156)
104 EVA ss5364755333 Oct 17, 2022 (156)
105 HUGCELL_USP ss5465687249 Oct 17, 2022 (156)
106 1000G_HIGH_COVERAGE ss5553619431 Oct 17, 2022 (156)
107 SANFORD_IMAGENETICS ss5624624809 Oct 17, 2022 (156)
108 SANFORD_IMAGENETICS ss5640101299 Oct 17, 2022 (156)
109 TOMMO_GENOMICS ss5714727252 Oct 17, 2022 (156)
110 EVA ss5799684380 Oct 17, 2022 (156)
111 YY_MCH ss5807314908 Oct 17, 2022 (156)
112 EVA ss5842036750 Oct 17, 2022 (156)
113 EVA ss5847291777 Oct 17, 2022 (156)
114 EVA ss5848091114 Oct 17, 2022 (156)
115 EVA ss5848652819 Oct 17, 2022 (156)
116 EVA ss5883263744 Oct 17, 2022 (156)
117 EVA ss5968603089 Oct 17, 2022 (156)
118 EVA ss5979781372 Oct 17, 2022 (156)
119 1000Genomes NC_000006.11 - 32369488 Oct 12, 2018 (152)
120 1000Genomes_30x NC_000006.12 - 32401711 Oct 17, 2022 (156)
121 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 32369488 Oct 12, 2018 (152)
122 Genome-wide autozygosity in Daghestan NC_000006.10 - 32477466 Apr 26, 2020 (154)
123 Genetic variation in the Estonian population NC_000006.11 - 32369488 Oct 12, 2018 (152)
124 The Danish reference pan genome NC_000006.11 - 32369488 Apr 26, 2020 (154)
125 gnomAD - Genomes NC_000006.12 - 32401711 Apr 26, 2021 (155)
126 GO Exome Sequencing Project NC_000006.11 - 32369488 Oct 12, 2018 (152)
127 Genome of the Netherlands Release 5 NC_000006.11 - 32369488 Apr 26, 2020 (154)
128 HGDP-CEPH-db Supplement 1 NC_000006.10 - 32477466 Apr 26, 2020 (154)
129 HapMap NC_000006.12 - 32401711 Apr 26, 2020 (154)
130 KOREAN population from KRGDB NC_000006.11 - 32369488 Apr 26, 2020 (154)
131 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 32369488 Apr 26, 2020 (154)
132 Northern Sweden NC_000006.11 - 32369488 Jul 13, 2019 (153)
133 The PAGE Study NC_000006.12 - 32401711 Jul 13, 2019 (153)
134 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 32369488 Apr 26, 2021 (155)
135 CNV burdens in cranial meningiomas NC_000006.11 - 32369488 Apr 26, 2021 (155)
136 Qatari NC_000006.11 - 32369488 Apr 26, 2020 (154)
137 SGDP_PRJ NC_000006.11 - 32369488 Apr 26, 2020 (154)
138 Siberian NC_000006.11 - 32369488 Apr 26, 2020 (154)
139 8.3KJPN NC_000006.11 - 32369488 Apr 26, 2021 (155)
140 14KJPN NC_000006.12 - 32401711 Oct 17, 2022 (156)
141 TopMed NC_000006.12 - 32401711 Apr 26, 2021 (155)
142 UK 10K study - Twins NC_000006.11 - 32369488 Oct 12, 2018 (152)
143 ALFA NC_000006.12 - 32401711 Apr 26, 2021 (155)
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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)
rs58645411 May 24, 2008 (130)
rs115695666 May 04, 2012 (137)
rs118166589 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639311783, ss3639681387 NC_000006.9:32477465:G:A NC_000006.12:32401710:G:A (self)
425288, 507401, ss278730262, ss285375465, ss480822101, ss825496130, ss1397450640, ss1592317074, ss1712852079, ss3643562944, ss3847829509 NC_000006.10:32477465:G:A NC_000006.12:32401710:G:A (self)
31347052, 17479722, 12459254, 7774802, 632665, 7771797, 18222472, 238578, 6653147, 440053, 115677, 8067488, 16284695, 4330344, 34832864, 17479722, ss233401796, ss240472546, ss480837778, ss481768088, ss485205855, ss537190585, ss653040474, ss712701863, ss778522894, ss783048909, ss784007547, ss832306723, ss832955000, ss833979326, ss982773466, ss1073510239, ss1319578711, ss1581609863, ss1615288819, ss1658282852, ss1711122818, ss1752630759, ss1926025558, ss1958891429, ss1970359228, ss2023646563, ss2094825826, ss2095179143, ss2151813990, ss2634432337, ss2707408016, ss2985995624, ss2998807686, ss3022602384, ss3629508638, ss3632350550, ss3634138987, ss3635059085, ss3635819961, ss3636780221, ss3637572753, ss3638621375, ss3640766384, ss3641193457, ss3641490590, ss3646335859, ss3653115573, ss3666721006, ss3733368282, ss3744551163, ss3745359055, ss3764830923, ss3772852731, ss3824174632, ss3825695494, ss3829836681, ss3864267715, ss3911045078, ss3984566272, ss3985214126, ss4017267542, ss5176863557, ss5237395231, ss5315143792, ss5364755333, ss5624624809, ss5640101299, ss5799684380, ss5842036750, ss5847291777, ss5848091114, ss5848652819, ss5968603089, ss5979781372 NC_000006.11:32369487:G:A NC_000006.12:32401710:G:A (self)
41145366, 221364785, 3101923, 502656, 48564356, 535931023, 2038740669, ss2282982723, ss3645944695, ss3716921436, ss3726332428, ss3771281187, ss3807985676, ss4698553465, ss5267955973, ss5465687249, ss5553619431, ss5714727252, ss5807314908, ss5883263744 NC_000006.12:32401710:G:A NC_000006.12:32401710:G:A (self)
ss15724174 NT_007592.13:23190934:G:A NC_000006.12:32401710:G:A (self)
ss4949342, ss12693266, ss66714368, ss67300689, ss67705437, ss68972049, ss70779323, ss71355610, ss75640109, ss79165612, ss84174165, ss122213363, ss154266618, ss159443432, ss160638330, ss171637896, ss173629233, ss410930066 NT_007592.15:32309487:G:A NC_000006.12:32401710:G:A (self)
ss12889922 NT_034874.2:3672889:G:A NC_000006.12:32401710:G:A (self)
Help

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

1 citation for rs3763305
PMID Title Author Year Journal
26677855 Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity. Fortney K et al. 2015 PLoS genetics
Help

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.

Software version is: 2.0.1.post761+d5e8e07