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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs897631

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:2908802 (GRCh38.p13) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.323665 (85671/264690, TOPMED)
C=0.316069 (44275/140080, GnomAD)
C=0.30097 (9280/30834, ALFA) (+ 16 more)
C=0.35203 (5900/16760, 8.3KJPN)
C=0.3746 (1876/5008, 1000G)
C=0.3181 (1425/4480, Estonian)
C=0.2364 (911/3854, ALSPAC)
C=0.2422 (898/3708, TWINSUK)
C=0.3396 (995/2930, KOREAN)
C=0.3958 (748/1890, HapMap)
C=0.3575 (655/1832, Korea1K)
C=0.236 (236/998, GoNL)
C=0.409 (256/626, Chileans)
C=0.320 (192/600, NorthernSweden)
T=0.332 (126/380, SGDP_PRJ)
C=0.301 (65/216, Qatari)
C=0.298 (62/208, Vietnamese)
C=0.23 (9/40, GENOME_DK)
T=0.44 (15/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.2908802T>C
GRCh37.p13 chr 1 NC_000001.10:g.2825367T>C
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 30834 T=0.69903 C=0.30097
European Sub 21234 T=0.74206 C=0.25794
African Sub 4768 T=0.5701 C=0.4299
African Others Sub 160 T=0.556 C=0.444
African American Sub 4608 T=0.5705 C=0.4295
Asian Sub 168 T=0.720 C=0.280
East Asian Sub 110 T=0.664 C=0.336
Other Asian Sub 58 T=0.83 C=0.17
Latin American 1 Sub 306 T=0.732 C=0.268
Latin American 2 Sub 2804 T=0.6166 C=0.3834
South Asian Sub 110 T=0.582 C=0.418
Other Sub 1444 T=0.6517 C=0.3483


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.676335 C=0.323665
gnomAD - Genomes Global Study-wide 140080 T=0.683931 C=0.316069
gnomAD - Genomes European Sub 75864 T=0.74614 C=0.25386
gnomAD - Genomes African Sub 41974 T=0.56733 C=0.43267
gnomAD - Genomes American Sub 13646 T=0.66987 C=0.33013
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.7682 C=0.2318
gnomAD - Genomes East Asian Sub 3120 T=0.7013 C=0.2987
gnomAD - Genomes Other Sub 2154 T=0.6992 C=0.3008
8.3KJPN JAPANESE Study-wide 16760 T=0.64797 C=0.35203
1000Genomes Global Study-wide 5008 T=0.6254 C=0.3746
1000Genomes African Sub 1322 T=0.5371 C=0.4629
1000Genomes East Asian Sub 1008 T=0.6567 C=0.3433
1000Genomes Europe Sub 1006 T=0.7495 C=0.2505
1000Genomes South Asian Sub 978 T=0.585 C=0.415
1000Genomes American Sub 694 T=0.625 C=0.375
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6819 C=0.3181
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7636 C=0.2364
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7578 C=0.2422
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6604 C=0.3396
HapMap Global Study-wide 1890 T=0.6042 C=0.3958
HapMap American Sub 768 T=0.672 C=0.328
HapMap African Sub 692 T=0.484 C=0.516
HapMap Asian Sub 254 T=0.626 C=0.374
HapMap Europe Sub 176 T=0.750 C=0.250
Korean Genome Project KOREAN Study-wide 1832 T=0.6425 C=0.3575
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.764 C=0.236
Chileans Chilean Study-wide 626 T=0.591 C=0.409
Northern Sweden ACPOP Study-wide 600 T=0.680 C=0.320
SGDP_PRJ Global Study-wide 380 T=0.332 C=0.668
Qatari Global Study-wide 216 T=0.699 C=0.301
A Vietnamese Genetic Variation Database Global Study-wide 208 T=0.702 C=0.298
The Danish reference pan genome Danish Study-wide 40 T=0.78 C=0.23
Siberian Global Study-wide 34 T=0.44 C=0.56
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= C
GRCh38.p13 chr 1 NC_000001.11:g.2908802= NC_000001.11:g.2908802T>C
GRCh37.p13 chr 1 NC_000001.10:g.2825367= NC_000001.10:g.2825367T>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

68 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1328459 Oct 05, 2000 (86)
2 SC_JCM ss3667421 Sep 28, 2001 (100)
3 WI_SSAHASNP ss6396340 Feb 20, 2003 (111)
4 WI_SSAHASNP ss11385187 Jul 11, 2003 (116)
5 SC_SNP ss12992726 Dec 05, 2003 (119)
6 CSHL-HAPMAP ss17364560 Feb 27, 2004 (120)
7 PERLEGEN ss23154255 Sep 20, 2004 (123)
8 ABI ss44037314 Mar 13, 2006 (126)
9 AFFY ss66206189 Dec 01, 2006 (127)
10 ILLUMINA ss75132654 Dec 06, 2007 (129)
11 AFFY ss76299359 Dec 06, 2007 (129)
12 HGSV ss80405295 Dec 14, 2007 (130)
13 KRIBB_YJKIM ss81443514 Dec 16, 2007 (130)
14 BGI ss105113982 Dec 01, 2009 (131)
15 1000GENOMES ss109955796 Jan 24, 2009 (130)
16 ILLUMINA-UK ss118446644 Feb 14, 2009 (130)
17 GMI ss154548751 Dec 01, 2009 (131)
18 ENSEMBL ss161243236 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss162995912 Jul 04, 2010 (132)
20 AFFY ss173175668 Jul 04, 2010 (132)
21 ILLUMINA ss174773106 Jul 04, 2010 (132)
22 BUSHMAN ss197911302 Jul 04, 2010 (132)
23 1000GENOMES ss218198006 Jul 14, 2010 (132)
24 1000GENOMES ss230400724 Jul 14, 2010 (132)
25 1000GENOMES ss238119872 Jul 15, 2010 (132)
26 GMI ss275688359 May 04, 2012 (137)
27 GMI ss283989956 Apr 25, 2013 (138)
28 PJP ss290496863 May 09, 2011 (134)
29 ILLUMINA ss537572900 Sep 08, 2015 (146)
30 TISHKOFF ss553726555 Apr 25, 2013 (138)
31 SSMP ss647530093 Apr 25, 2013 (138)
32 EVA-GONL ss974787017 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1067621593 Aug 21, 2014 (142)
34 1000GENOMES ss1289416744 Aug 21, 2014 (142)
35 EVA_GENOME_DK ss1573856995 Apr 01, 2015 (144)
36 EVA_DECODE ss1584146537 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1599409945 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1642403978 Apr 01, 2015 (144)
39 EVA_SVP ss1712306237 Apr 01, 2015 (144)
40 HAMMER_LAB ss1793755554 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1917981877 Feb 12, 2016 (147)
42 GENOMED ss1966669813 Jul 19, 2016 (147)
43 JJLAB ss2019507195 Sep 14, 2016 (149)
44 USC_VALOUEV ss2147497043 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2159503329 Dec 20, 2016 (150)
46 TOPMED ss2321659057 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2624269418 Nov 08, 2017 (151)
48 GRF ss2697390610 Nov 08, 2017 (151)
49 GNOMAD ss2750879320 Nov 08, 2017 (151)
50 SWEGEN ss2986187560 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3023517365 Nov 08, 2017 (151)
52 TOPMED ss3066923421 Nov 08, 2017 (151)
53 CSHL ss3343284398 Nov 08, 2017 (151)
54 ILLUMINA ss3626009918 Oct 11, 2018 (152)
55 ILLUMINA ss3637733322 Oct 11, 2018 (152)
56 ILLUMINA ss3642747547 Oct 11, 2018 (152)
57 EGCUT_WGS ss3654288498 Jul 12, 2019 (153)
58 EVA_DECODE ss3686030164 Jul 12, 2019 (153)
59 ACPOP ss3726732154 Jul 12, 2019 (153)
60 EVA ss3745743644 Jul 12, 2019 (153)
61 KHV_HUMAN_GENOMES ss3798766138 Jul 12, 2019 (153)
62 EVA ss3825989643 Apr 25, 2020 (154)
63 SGDP_PRJ ss3848049197 Apr 25, 2020 (154)
64 KRGDB ss3892908690 Apr 25, 2020 (154)
65 KOGIC ss3943672532 Apr 25, 2020 (154)
66 EVA ss4016889727 Apr 25, 2021 (155)
67 TOPMED ss4437039940 Apr 25, 2021 (155)
68 TOMMO_GENOMICS ss5142161631 Apr 25, 2021 (155)
69 1000Genomes NC_000001.10 - 2825367 Oct 11, 2018 (152)
70 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 2825367 Oct 11, 2018 (152)
71 Chileans NC_000001.10 - 2825367 Apr 25, 2020 (154)
72 Genetic variation in the Estonian population NC_000001.10 - 2825367 Oct 11, 2018 (152)
73 The Danish reference pan genome NC_000001.10 - 2825367 Apr 25, 2020 (154)
74 gnomAD - Genomes NC_000001.11 - 2908802 Apr 25, 2021 (155)
75 Genome of the Netherlands Release 5 NC_000001.10 - 2825367 Apr 25, 2020 (154)
76 HapMap NC_000001.11 - 2908802 Apr 25, 2020 (154)
77 KOREAN population from KRGDB NC_000001.10 - 2825367 Apr 25, 2020 (154)
78 Korean Genome Project NC_000001.11 - 2908802 Apr 25, 2020 (154)
79 Northern Sweden NC_000001.10 - 2825367 Jul 12, 2019 (153)
80 Qatari NC_000001.10 - 2825367 Apr 25, 2020 (154)
81 SGDP_PRJ NC_000001.10 - 2825367 Apr 25, 2020 (154)
82 Siberian NC_000001.10 - 2825367 Apr 25, 2020 (154)
83 8.3KJPN NC_000001.10 - 2825367 Apr 25, 2021 (155)
84 TopMed NC_000001.11 - 2908802 Apr 25, 2021 (155)
85 UK 10K study - Twins NC_000001.10 - 2825367 Oct 11, 2018 (152)
86 A Vietnamese Genetic Variation Database NC_000001.10 - 2825367 Jul 12, 2019 (153)
87 ALFA NC_000001.11 - 2908802 Apr 25, 2021 (155)
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)
rs57148788 May 23, 2008 (130)
rs61292856 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80405295 NC_000001.8:2848523:T:C NC_000001.11:2908801:T:C (self)
ss109955796, ss118446644, ss162995912, ss197911302, ss275688359, ss283989956, ss290496863, ss1584146537, ss1712306237, ss3642747547 NC_000001.9:2815226:T:C NC_000001.11:2908801:T:C (self)
83769, 34850, 89, 26746, 1364229, 14595, 86084, 17019, 23807, 66177, 13397, 130938, 34850, 7089, ss218198006, ss230400724, ss238119872, ss537572900, ss553726555, ss647530093, ss974787017, ss1067621593, ss1289416744, ss1573856995, ss1599409945, ss1642403978, ss1793755554, ss1917981877, ss1966669813, ss2019507195, ss2147497043, ss2321659057, ss2624269418, ss2697390610, ss2750879320, ss2986187560, ss3343284398, ss3626009918, ss3637733322, ss3654288498, ss3726732154, ss3745743644, ss3825989643, ss3848049197, ss3892908690, ss4016889727, ss5142161631 NC_000001.10:2825366:T:C NC_000001.11:2908801:T:C (self)
636995, 1541, 50533, 398186, 646275, 7395797229, ss2159503329, ss3023517365, ss3066923421, ss3686030164, ss3798766138, ss3943672532, ss4437039940 NC_000001.11:2908801:T:C NC_000001.11:2908801:T:C (self)
ss11385187, ss12992726, ss17364560 NT_004321.15:132141:T:C NC_000001.11:2908801:T:C (self)
ss1328459, ss3667421, ss6396340, ss23154255, ss44037314, ss66206189, ss75132654, ss76299359, ss81443514, ss105113982, ss154548751, ss161243236, ss173175668, ss174773106 NT_004350.19:2303998:T:C NC_000001.11:2908801: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 rs897631

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.post596+ae089ad