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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.

rs3763510

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:42417442 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.028985 (7749/267348, ALFA)
C=0.070377 (18628/264690, TOPMED)
C=0.029165 (5981/205076, GENOGRAPHIC) (+ 22 more)
C=0.073430 (10292/140160, GnomAD)
C=0.09488 (7467/78700, PAGE_STUDY)
C=0.06734 (1903/28258, 14KJPN)
C=0.07011 (1175/16760, 8.3KJPN)
C=0.0945 (605/6404, 1000G_30x)
C=0.0933 (467/5008, 1000G)
C=0.0292 (131/4480, Estonian)
C=0.0275 (106/3854, ALSPAC)
C=0.0275 (102/3708, TWINSUK)
C=0.0826 (242/2930, KOREAN)
C=0.0715 (149/2084, HGDP_Stanford)
C=0.0764 (140/1832, Korea1K)
C=0.1110 (199/1792, HapMap)
C=0.027 (27/998, GoNL)
C=0.081 (64/792, PRJEB37584)
C=0.014 (9/626, Chileans)
C=0.043 (26/600, NorthernSweden)
C=0.083 (18/216, Qatari)
C=0.148 (32/216, Vietnamese)
T=0.472 (51/108, SGDP_PRJ)
C=0.00 (0/30, Ancient Sardinia)
T=0.2 (1/4, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLC20A2 : 3 Prime UTR 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 272384 T=0.970435 A=0.000000, C=0.029565
European Sub 241968 T=0.977212 A=0.000000, C=0.022788
African Sub 9276 T=0.8430 A=0.0000, C=0.1570
African Others Sub 362 T=0.812 A=0.000, C=0.188
African American Sub 8914 T=0.8443 A=0.0000, C=0.1557
Asian Sub 3818 T=0.9246 A=0.0000, C=0.0754
East Asian Sub 3104 T=0.9227 A=0.0000, C=0.0773
Other Asian Sub 714 T=0.933 A=0.000, C=0.067
Latin American 1 Sub 1004 T=0.9482 A=0.0000, C=0.0518
Latin American 2 Sub 2038 T=0.9774 A=0.0000, C=0.0226
South Asian Sub 5226 T=0.9493 A=0.0000, C=0.0507
Other Sub 9054 T=0.9523 A=0.0000, C=0.0477


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
Allele Frequency Aggregator Total Global 267348 T=0.971015 A=0.000000, C=0.028985
Allele Frequency Aggregator European Sub 238874 T=0.977197 A=0.000000, C=0.022803
Allele Frequency Aggregator Other Sub 8254 T=0.9532 A=0.0000, C=0.0468
Allele Frequency Aggregator African Sub 8134 T=0.8445 A=0.0000, C=0.1555
Allele Frequency Aggregator South Asian Sub 5226 T=0.9493 A=0.0000, C=0.0507
Allele Frequency Aggregator Asian Sub 3818 T=0.9246 A=0.0000, C=0.0754
Allele Frequency Aggregator Latin American 2 Sub 2038 T=0.9774 A=0.0000, C=0.0226
Allele Frequency Aggregator Latin American 1 Sub 1004 T=0.9482 A=0.0000, C=0.0518
TopMed Global Study-wide 264690 T=0.929623 C=0.070377
Genographic Project Global Study-wide 205076 T=0.970835 C=0.029165
gnomAD - Genomes Global Study-wide 140160 T=0.926570 C=0.073430
gnomAD - Genomes European Sub 75930 T=0.96423 C=0.03577
gnomAD - Genomes African Sub 41974 T=0.84035 C=0.15965
gnomAD - Genomes American Sub 13656 T=0.96910 C=0.03090
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.9843 C=0.0157
gnomAD - Genomes East Asian Sub 3130 T=0.9121 C=0.0879
gnomAD - Genomes Other Sub 2150 T=0.9414 C=0.0586
The PAGE Study Global Study-wide 78700 T=0.90512 C=0.09488
The PAGE Study AfricanAmerican Sub 32514 T=0.84271 C=0.15729
The PAGE Study Mexican Sub 10810 T=0.97872 C=0.02128
The PAGE Study Asian Sub 8318 T=0.9312 C=0.0688
The PAGE Study PuertoRican Sub 7918 T=0.9278 C=0.0722
The PAGE Study NativeHawaiian Sub 4534 T=0.9636 C=0.0364
The PAGE Study Cuban Sub 4230 T=0.9525 C=0.0475
The PAGE Study Dominican Sub 3828 T=0.9094 C=0.0906
The PAGE Study CentralAmerican Sub 2450 T=0.9580 C=0.0420
The PAGE Study SouthAmerican Sub 1982 T=0.9687 C=0.0313
The PAGE Study NativeAmerican Sub 1260 T=0.9635 C=0.0365
The PAGE Study SouthAsian Sub 856 T=0.936 C=0.064
14KJPN JAPANESE Study-wide 28258 T=0.93266 C=0.06734
8.3KJPN JAPANESE Study-wide 16760 T=0.92989 C=0.07011
1000Genomes_30x Global Study-wide 6404 T=0.9055 C=0.0945
1000Genomes_30x African Sub 1786 T=0.8035 C=0.1965
1000Genomes_30x Europe Sub 1266 T=0.9724 C=0.0276
1000Genomes_30x South Asian Sub 1202 T=0.9351 C=0.0649
1000Genomes_30x East Asian Sub 1170 T=0.8983 C=0.1017
1000Genomes_30x American Sub 980 T=0.978 C=0.022
1000Genomes Global Study-wide 5008 T=0.9067 C=0.0933
1000Genomes African Sub 1322 T=0.8079 C=0.1921
1000Genomes East Asian Sub 1008 T=0.8988 C=0.1012
1000Genomes Europe Sub 1006 T=0.9672 C=0.0328
1000Genomes South Asian Sub 978 T=0.940 C=0.060
1000Genomes American Sub 694 T=0.973 C=0.027
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9708 C=0.0292
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9725 C=0.0275
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9725 C=0.0275
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.9174 C=0.0826
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.9285 C=0.0715
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.894 C=0.106
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.964 C=0.036
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.951 C=0.049
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.978 C=0.022
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.822 C=0.178
HGDP-CEPH-db Supplement 1 America Sub 216 T=1.000 C=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.76 C=0.24
Korean Genome Project KOREAN Study-wide 1832 T=0.9236 C=0.0764
HapMap Global Study-wide 1792 T=0.8890 C=0.1110
HapMap African Sub 692 T=0.822 C=0.178
HapMap American Sub 670 T=0.931 C=0.069
HapMap Asian Sub 254 T=0.913 C=0.087
HapMap Europe Sub 176 T=0.955 C=0.045
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.973 C=0.027
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.919 C=0.081
CNV burdens in cranial meningiomas CRM Sub 792 T=0.919 C=0.081
Chileans Chilean Study-wide 626 T=0.986 C=0.014
Northern Sweden ACPOP Study-wide 600 T=0.957 C=0.043
Qatari Global Study-wide 216 T=0.917 C=0.083
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.852 C=0.148
SGDP_PRJ Global Study-wide 108 T=0.472 C=0.528
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 30 T=1.00 C=0.00
Siberian Global Study-wide 4 T=0.2 C=0.8
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 8 NC_000008.11:g.42417442T>A
GRCh38.p14 chr 8 NC_000008.11:g.42417442T>C
GRCh37.p13 chr 8 NC_000008.10:g.42274960T>A
GRCh37.p13 chr 8 NC_000008.10:g.42274960T>C
SLC20A2 RefSeqGene NG_032161.1:g.127397A>T
SLC20A2 RefSeqGene NG_032161.1:g.127397A>G
Gene: SLC20A2, solute carrier family 20 member 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC20A2 transcript variant 1 NM_001257180.2:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant 2 NM_006749.5:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant 3 NM_001257181.2:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X1 XM_005273613.4:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X2 XM_017013748.2:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X3 XM_024447235.2:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X4 XM_024447236.2:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X5 XM_047422120.1:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X6 XM_047422121.1:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X7 XM_047422122.1:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X8 XM_006716390.5:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X9 XM_017013749.3:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X10 XM_047422123.1:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X11 XM_047422124.1:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X12 XM_024447237.2:c.*361= N/A 3 Prime UTR Variant
SLC20A2 transcript variant X13 XM_017013752.3:c.*361= N/A 3 Prime UTR 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: C (allele ID: 314456 )
ClinVar Accession Disease Names Clinical Significance
RCV000334207.3 Idiopathic basal ganglia calcification 1 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 C
GRCh38.p14 chr 8 NC_000008.11:g.42417442= NC_000008.11:g.42417442T>A NC_000008.11:g.42417442T>C
GRCh37.p13 chr 8 NC_000008.10:g.42274960= NC_000008.10:g.42274960T>A NC_000008.10:g.42274960T>C
SLC20A2 RefSeqGene NG_032161.1:g.127397= NG_032161.1:g.127397A>T NG_032161.1:g.127397A>G
SLC20A2 transcript variant 2 NM_006749.5:c.*361= NM_006749.5:c.*361A>T NM_006749.5:c.*361A>G
SLC20A2 transcript variant 2 NM_006749.4:c.*361= NM_006749.4:c.*361A>T NM_006749.4:c.*361A>G
SLC20A2 transcript variant 1 NM_001257180.2:c.*361= NM_001257180.2:c.*361A>T NM_001257180.2:c.*361A>G
SLC20A2 transcript variant 1 NM_001257180.1:c.*361= NM_001257180.1:c.*361A>T NM_001257180.1:c.*361A>G
SLC20A2 transcript variant 3 NM_001257181.2:c.*361= NM_001257181.2:c.*361A>T NM_001257181.2:c.*361A>G
SLC20A2 transcript variant 3 NM_001257181.1:c.*361= NM_001257181.1:c.*361A>T NM_001257181.1:c.*361A>G
SLC20A2 transcript variant X8 XM_006716390.5:c.*361= XM_006716390.5:c.*361A>T XM_006716390.5:c.*361A>G
SLC20A2 transcript variant X7 XM_006716390.4:c.*361= XM_006716390.4:c.*361A>T XM_006716390.4:c.*361A>G
SLC20A2 transcript variant X5 XM_006716390.3:c.*361= XM_006716390.3:c.*361A>T XM_006716390.3:c.*361A>G
SLC20A2 transcript variant X3 XM_006716390.2:c.*361= XM_006716390.2:c.*361A>T XM_006716390.2:c.*361A>G
SLC20A2 transcript variant X4 XM_006716390.1:c.*361= XM_006716390.1:c.*361A>T XM_006716390.1:c.*361A>G
SLC20A2 transcript variant X1 XM_005273613.4:c.*361= XM_005273613.4:c.*361A>T XM_005273613.4:c.*361A>G
SLC20A2 transcript variant X1 XM_005273613.3:c.*361= XM_005273613.3:c.*361A>T XM_005273613.3:c.*361A>G
SLC20A2 transcript variant X1 XM_005273613.2:c.*361= XM_005273613.2:c.*361A>T XM_005273613.2:c.*361A>G
SLC20A2 transcript variant X1 XM_005273613.1:c.*361= XM_005273613.1:c.*361A>T XM_005273613.1:c.*361A>G
SLC20A2 transcript variant X13 XM_017013752.3:c.*361= XM_017013752.3:c.*361A>T XM_017013752.3:c.*361A>G
SLC20A2 transcript variant X12 XM_017013752.2:c.*361= XM_017013752.2:c.*361A>T XM_017013752.2:c.*361A>G
SLC20A2 transcript variant X9 XM_017013752.1:c.*361= XM_017013752.1:c.*361A>T XM_017013752.1:c.*361A>G
SLC20A2 transcript variant X9 XM_017013749.3:c.*361= XM_017013749.3:c.*361A>T XM_017013749.3:c.*361A>G
SLC20A2 transcript variant X6 XM_017013749.2:c.*361= XM_017013749.2:c.*361A>T XM_017013749.2:c.*361A>G
SLC20A2 transcript variant X4 XM_017013749.1:c.*361= XM_017013749.1:c.*361A>T XM_017013749.1:c.*361A>G
SLC20A2 transcript variant X3 XM_024447235.2:c.*361= XM_024447235.2:c.*361A>T XM_024447235.2:c.*361A>G
SLC20A2 transcript variant X2 XM_024447235.1:c.*361= XM_024447235.1:c.*361A>T XM_024447235.1:c.*361A>G
SLC20A2 transcript variant X4 XM_024447236.2:c.*361= XM_024447236.2:c.*361A>T XM_024447236.2:c.*361A>G
SLC20A2 transcript variant X4 XM_024447236.1:c.*361= XM_024447236.1:c.*361A>T XM_024447236.1:c.*361A>G
SLC20A2 transcript variant X2 XM_017013748.2:c.*361= XM_017013748.2:c.*361A>T XM_017013748.2:c.*361A>G
SLC20A2 transcript variant X3 XM_017013748.1:c.*361= XM_017013748.1:c.*361A>T XM_017013748.1:c.*361A>G
SLC20A2 transcript variant X12 XM_024447237.2:c.*361= XM_024447237.2:c.*361A>T XM_024447237.2:c.*361A>G
SLC20A2 transcript variant X8 XM_024447237.1:c.*361= XM_024447237.1:c.*361A>T XM_024447237.1:c.*361A>G
SLC20A2 transcript variant X10 XM_047422123.1:c.*361= XM_047422123.1:c.*361A>T XM_047422123.1:c.*361A>G
SLC20A2 transcript variant X6 XM_047422121.1:c.*361= XM_047422121.1:c.*361A>T XM_047422121.1:c.*361A>G
SLC20A2 transcript variant X5 XM_047422120.1:c.*361= XM_047422120.1:c.*361A>T XM_047422120.1:c.*361A>G
SLC20A2 transcript variant X7 XM_047422122.1:c.*361= XM_047422122.1:c.*361A>T XM_047422122.1:c.*361A>G
SLC20A2 transcript variant X11 XM_047422124.1:c.*361= XM_047422124.1:c.*361A>T XM_047422124.1:c.*361A>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#.

118 SubSNP, 25 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4949548 Aug 28, 2002 (107)
2 WI_SSAHASNP ss11928650 Jul 11, 2003 (116)
3 PERLEGEN ss24029594 Sep 20, 2004 (123)
4 AFFY ss66412087 Dec 01, 2006 (127)
5 ILLUMINA ss67300707 Dec 01, 2006 (127)
6 ILLUMINA ss67705455 Dec 01, 2006 (127)
7 ILLUMINA ss68220913 Dec 12, 2006 (127)
8 PERLEGEN ss69047862 May 17, 2007 (127)
9 ILLUMINA ss70779342 May 25, 2008 (130)
10 ILLUMINA ss71355629 May 17, 2007 (127)
11 ILLUMINA ss74929517 Dec 06, 2007 (129)
12 AFFY ss76171057 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss84174236 Dec 15, 2007 (130)
14 1000GENOMES ss115331734 Jan 25, 2009 (130)
15 ILLUMINA ss154266640 Dec 01, 2009 (131)
16 ILLUMINA ss159443451 Dec 01, 2009 (131)
17 ILLUMINA ss160638381 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss164527869 Jul 04, 2010 (132)
19 ILLUMINA ss173629329 Jul 04, 2010 (132)
20 BUSHMAN ss199089571 Jul 04, 2010 (132)
21 1000GENOMES ss223674008 Jul 14, 2010 (132)
22 1000GENOMES ss241276525 Jul 15, 2010 (132)
23 GMI ss279785282 May 04, 2012 (137)
24 PJP ss294264310 May 09, 2011 (134)
25 ILLUMINA ss480822261 May 04, 2012 (137)
26 ILLUMINA ss480837937 May 04, 2012 (137)
27 ILLUMINA ss481768289 Sep 08, 2015 (146)
28 ILLUMINA ss484271228 May 04, 2012 (137)
29 ILLUMINA ss485205934 May 04, 2012 (137)
30 ILLUMINA ss485621693 May 04, 2012 (137)
31 ILLUMINA ss536456133 Sep 08, 2015 (146)
32 TISHKOFF ss560710409 Apr 25, 2013 (138)
33 SSMP ss655142493 Apr 25, 2013 (138)
34 ILLUMINA ss780666424 Sep 08, 2015 (146)
35 ILLUMINA ss782581650 Sep 08, 2015 (146)
36 ILLUMINA ss783048949 Sep 08, 2015 (146)
37 ILLUMINA ss832306763 Sep 08, 2015 (146)
38 ILLUMINA ss832955019 Jul 13, 2019 (153)
39 ILLUMINA ss836162178 Sep 08, 2015 (146)
40 EVA-GONL ss985445014 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1075469861 Aug 21, 2014 (142)
42 1000GENOMES ss1329576450 Aug 21, 2014 (142)
43 DDI ss1431493230 Apr 01, 2015 (144)
44 EVA_DECODE ss1595042534 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1620490259 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1663484292 Apr 01, 2015 (144)
47 EVA_SVP ss1713032998 Apr 01, 2015 (144)
48 ILLUMINA ss1752732579 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1928734258 Feb 12, 2016 (147)
50 ILLUMINA ss1946235824 Feb 12, 2016 (147)
51 ILLUMINA ss1959106779 Feb 12, 2016 (147)
52 JJLAB ss2025070167 Sep 14, 2016 (149)
53 USC_VALOUEV ss2153292479 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2302678767 Dec 20, 2016 (150)
55 ILLUMINA ss2634741255 Nov 08, 2017 (151)
56 ILLUMINA ss2634741256 Nov 08, 2017 (151)
57 GRF ss2709058636 Nov 08, 2017 (151)
58 ILLUMINA ss2711136862 Nov 08, 2017 (151)
59 GNOMAD ss2865962971 Nov 08, 2017 (151)
60 SWEGEN ss3003064991 Nov 08, 2017 (151)
61 ILLUMINA ss3022841131 Nov 08, 2017 (151)
62 ILLUMINA ss3625950954 Oct 12, 2018 (152)
63 ILLUMINA ss3630049467 Oct 12, 2018 (152)
64 ILLUMINA ss3632640605 Oct 12, 2018 (152)
65 ILLUMINA ss3633499155 Oct 12, 2018 (152)
66 ILLUMINA ss3634225875 Oct 12, 2018 (152)
67 ILLUMINA ss3635169725 Oct 12, 2018 (152)
68 ILLUMINA ss3635904708 Oct 12, 2018 (152)
69 ILLUMINA ss3636907103 Oct 12, 2018 (152)
70 ILLUMINA ss3637657875 Oct 12, 2018 (152)
71 ILLUMINA ss3638757396 Oct 12, 2018 (152)
72 ILLUMINA ss3639381220 Oct 12, 2018 (152)
73 ILLUMINA ss3639985136 Oct 12, 2018 (152)
74 ILLUMINA ss3640877015 Oct 12, 2018 (152)
75 ILLUMINA ss3643688450 Oct 12, 2018 (152)
76 ILLUMINA ss3644028610 Oct 12, 2018 (152)
77 ILLUMINA ss3644969027 Oct 12, 2018 (152)
78 ILLUMINA ss3653382799 Oct 12, 2018 (152)
79 EGCUT_WGS ss3670759503 Jul 13, 2019 (153)
80 EVA_DECODE ss3721887156 Jul 13, 2019 (153)
81 ILLUMINA ss3726533857 Jul 13, 2019 (153)
82 ACPOP ss3735609295 Jul 13, 2019 (153)
83 ILLUMINA ss3744305222 Jul 13, 2019 (153)
84 ILLUMINA ss3745469598 Jul 13, 2019 (153)
85 EVA ss3767920232 Jul 13, 2019 (153)
86 PAGE_CC ss3771439376 Jul 13, 2019 (153)
87 ILLUMINA ss3772962049 Jul 13, 2019 (153)
88 KHV_HUMAN_GENOMES ss3811080521 Jul 13, 2019 (153)
89 EVA ss3825740598 Apr 26, 2020 (154)
90 HGDP ss3847912198 Apr 26, 2020 (154)
91 SGDP_PRJ ss3869783701 Apr 26, 2020 (154)
92 KRGDB ss3917241403 Apr 26, 2020 (154)
93 KOGIC ss3963726309 Apr 26, 2020 (154)
94 EVA ss3984604722 Apr 26, 2021 (155)
95 EVA ss3985357316 Apr 26, 2021 (155)
96 EVA ss3986043734 Apr 26, 2021 (155)
97 EVA ss4017387934 Apr 26, 2021 (155)
98 TOPMED ss4783724876 Apr 26, 2021 (155)
99 TOMMO_GENOMICS ss5188393623 Apr 26, 2021 (155)
100 EVA ss5237441030 Apr 26, 2021 (155)
101 1000G_HIGH_COVERAGE ss5276905064 Oct 16, 2022 (156)
102 GENOGRAPHIC ss5314526952 Oct 16, 2022 (156)
103 EVA ss5315328933 Oct 16, 2022 (156)
104 EVA ss5380713268 Oct 16, 2022 (156)
105 HUGCELL_USP ss5473504920 Oct 16, 2022 (156)
106 EVA ss5509328971 Oct 16, 2022 (156)
107 1000G_HIGH_COVERAGE ss5567124076 Oct 16, 2022 (156)
108 SANFORD_IMAGENETICS ss5624692433 Oct 16, 2022 (156)
109 SANFORD_IMAGENETICS ss5645248857 Oct 16, 2022 (156)
110 TOMMO_GENOMICS ss5730226855 Oct 16, 2022 (156)
111 EVA ss5799754838 Oct 16, 2022 (156)
112 YY_MCH ss5809652012 Oct 16, 2022 (156)
113 EVA ss5830444840 Oct 16, 2022 (156)
114 EVA ss5848175288 Oct 16, 2022 (156)
115 EVA ss5856352634 Oct 16, 2022 (156)
116 EVA ss5888693067 Oct 16, 2022 (156)
117 EVA ss5974449557 Oct 16, 2022 (156)
118 EVA ss5979861731 Oct 16, 2022 (156)
119 1000Genomes NC_000008.10 - 42274960 Oct 12, 2018 (152)
120 1000Genomes_30x NC_000008.11 - 42417442 Oct 16, 2022 (156)
121 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 42274960 Oct 12, 2018 (152)
122 Chileans NC_000008.10 - 42274960 Apr 26, 2020 (154)
123 Genetic variation in the Estonian population NC_000008.10 - 42274960 Oct 12, 2018 (152)
124 Genographic Project NC_000008.11 - 42417442 Oct 16, 2022 (156)
125 gnomAD - Genomes NC_000008.11 - 42417442 Apr 26, 2021 (155)
126 Genome of the Netherlands Release 5 NC_000008.10 - 42274960 Apr 26, 2020 (154)
127 HGDP-CEPH-db Supplement 1 NC_000008.9 - 42394117 Apr 26, 2020 (154)
128 HapMap NC_000008.11 - 42417442 Apr 26, 2020 (154)
129 KOREAN population from KRGDB NC_000008.10 - 42274960 Apr 26, 2020 (154)
130 Korean Genome Project NC_000008.11 - 42417442 Apr 26, 2020 (154)
131 Northern Sweden NC_000008.10 - 42274960 Jul 13, 2019 (153)
132 The PAGE Study NC_000008.11 - 42417442 Jul 13, 2019 (153)
133 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 42274960 Apr 26, 2021 (155)
134 CNV burdens in cranial meningiomas NC_000008.10 - 42274960 Apr 26, 2021 (155)
135 Qatari NC_000008.10 - 42274960 Apr 26, 2020 (154)
136 SGDP_PRJ NC_000008.10 - 42274960 Apr 26, 2020 (154)
137 Siberian NC_000008.10 - 42274960 Apr 26, 2020 (154)
138 8.3KJPN NC_000008.10 - 42274960 Apr 26, 2021 (155)
139 14KJPN NC_000008.11 - 42417442 Oct 16, 2022 (156)
140 TopMed NC_000008.11 - 42417442 Apr 26, 2021 (155)
141 UK 10K study - Twins NC_000008.10 - 42274960 Oct 12, 2018 (152)
142 A Vietnamese Genetic Variation Database NC_000008.10 - 42274960 Jul 13, 2019 (153)
143 ALFA NC_000008.11 - 42417442 Apr 26, 2021 (155)
144 ClinVar RCV000334207.3 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).

Associated ID History Updated (Build)
rs60275025 May 25, 2008 (130)
rs118058629 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9719591924 NC_000008.11:42417441:T:A NC_000008.11:42417441:T:A (self)
590090, ss115331734, ss164527869, ss199089571, ss279785282, ss294264310, ss480822261, ss485621693, ss1595042534, ss1713032998, ss3639381220, ss3639985136, ss3643688450, ss3644028610, ss3847912198 NC_000008.9:42394116:T:C NC_000008.11:42417441:T:C (self)
41693090, 23187438, 433843, 16497751, 10354915, 24418797, 8894160, 583243, 154160, 10776188, 21800681, 5808833, 46362930, 23187438, 5165290, ss223674008, ss241276525, ss480837937, ss481768289, ss484271228, ss485205934, ss536456133, ss560710409, ss655142493, ss780666424, ss782581650, ss783048949, ss832306763, ss832955019, ss836162178, ss985445014, ss1075469861, ss1329576450, ss1431493230, ss1620490259, ss1663484292, ss1752732579, ss1928734258, ss1946235824, ss1959106779, ss2025070167, ss2153292479, ss2634741255, ss2634741256, ss2709058636, ss2711136862, ss2865962971, ss3003064991, ss3022841131, ss3625950954, ss3630049467, ss3632640605, ss3633499155, ss3634225875, ss3635169725, ss3635904708, ss3636907103, ss3637657875, ss3638757396, ss3640877015, ss3644969027, ss3653382799, ss3670759503, ss3735609295, ss3744305222, ss3745469598, ss3767920232, ss3772962049, ss3825740598, ss3869783701, ss3917241403, ss3984604722, ss3985357316, ss3986043734, ss4017387934, ss5188393623, ss5237441030, ss5315328933, ss5380713268, ss5509328971, ss5624692433, ss5645248857, ss5799754838, ss5830444840, ss5848175288, ss5974449557, ss5979861731 NC_000008.10:42274959:T:C NC_000008.11:42417441:T:C (self)
RCV000334207.3, 54650011, 6937, 293978661, 3613538, 20104310, 660845, 64063959, 621102436, 9719591924, ss2302678767, ss3721887156, ss3726533857, ss3771439376, ss3811080521, ss3963726309, ss4783724876, ss5276905064, ss5314526952, ss5473504920, ss5567124076, ss5730226855, ss5809652012, ss5856352634, ss5888693067 NC_000008.11:42417441:T:C NC_000008.11:42417441:T:C (self)
ss11928650 NT_008251.13:4322271:T:C NC_000008.11:42417441:T:C (self)
ss4949548, ss24029594, ss66412087, ss67300707, ss67705455, ss68220913, ss69047862, ss70779342, ss71355629, ss74929517, ss76171057, ss84174236, ss154266640, ss159443451, ss160638381, ss173629329 NT_167187.1:30133105:T:C NC_000008.11:42417441:T:C (self)
Help

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

No publications for rs3763510

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