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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.

rs10195681

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:18674 (GRCh38.p14) Help

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

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.051902 (13738/264690, TOPMED)
A=0.050748 (7113/140164, GnomAD)
A=0.034168 (4655/136238, ALFA) (+ 14 more)
A=0.02828 (799/28258, 14KJPN)
A=0.02858 (479/16760, 8.3KJPN)
A=0.0623 (399/6404, 1000G_30x)
A=0.0609 (305/5008, 1000G)
A=0.0259 (100/3854, ALSPAC)
A=0.0259 (96/3708, TWINSUK)
A=0.0457 (134/2930, KOREAN)
A=0.0502 (92/1832, Korea1K)
A=0.0664 (89/1340, HapMap)
A=0.030 (30/998, GoNL)
A=0.060 (36/600, NorthernSweden)
A=0.060 (13/216, Qatari)
A=0.074 (16/216, Vietnamese)
C=0.41 (34/82, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 136238 C=0.965832 A=0.034168
European Sub 116364 C=0.968934 A=0.031066
African Sub 6330 C=0.9104 A=0.0896
African Others Sub 234 C=0.910 A=0.090
African American Sub 6096 C=0.9104 A=0.0896
Asian Sub 342 C=0.944 A=0.056
East Asian Sub 242 C=0.955 A=0.045
Other Asian Sub 100 C=0.92 A=0.08
Latin American 1 Sub 720 C=0.944 A=0.056
Latin American 2 Sub 6146 C=0.9753 A=0.0247
South Asian Sub 166 C=0.982 A=0.018
Other Sub 6170 C=0.9580 A=0.0420


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 C=0.948098 A=0.051902
gnomAD - Genomes Global Study-wide 140164 C=0.949252 A=0.050748
gnomAD - Genomes European Sub 75922 C=0.97245 A=0.02755
gnomAD - Genomes African Sub 41980 C=0.90648 A=0.09352
gnomAD - Genomes American Sub 13662 C=0.96465 A=0.03535
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9118 A=0.0882
gnomAD - Genomes East Asian Sub 3130 C=0.9329 A=0.0671
gnomAD - Genomes Other Sub 2148 C=0.9493 A=0.0507
Allele Frequency Aggregator Total Global 136238 C=0.965832 A=0.034168
Allele Frequency Aggregator European Sub 116364 C=0.968934 A=0.031066
Allele Frequency Aggregator African Sub 6330 C=0.9104 A=0.0896
Allele Frequency Aggregator Other Sub 6170 C=0.9580 A=0.0420
Allele Frequency Aggregator Latin American 2 Sub 6146 C=0.9753 A=0.0247
Allele Frequency Aggregator Latin American 1 Sub 720 C=0.944 A=0.056
Allele Frequency Aggregator Asian Sub 342 C=0.944 A=0.056
Allele Frequency Aggregator South Asian Sub 166 C=0.982 A=0.018
14KJPN JAPANESE Study-wide 28258 C=0.97172 A=0.02828
8.3KJPN JAPANESE Study-wide 16760 C=0.97142 A=0.02858
1000Genomes_30x Global Study-wide 6404 C=0.9375 A=0.0623, T=0.0002
1000Genomes_30x African Sub 1786 C=0.8875 A=0.1125, T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9660 A=0.0340, T=0.0000
1000Genomes_30x South Asian Sub 1202 C=0.9551 A=0.0441, T=0.0008
1000Genomes_30x East Asian Sub 1170 C=0.9573 A=0.0427, T=0.0000
1000Genomes_30x American Sub 980 C=0.947 A=0.053, T=0.000
1000Genomes Global Study-wide 5008 C=0.9391 A=0.0609
1000Genomes African Sub 1322 C=0.8880 A=0.1120
1000Genomes East Asian Sub 1008 C=0.9623 A=0.0377
1000Genomes Europe Sub 1006 C=0.9662 A=0.0338
1000Genomes South Asian Sub 978 C=0.952 A=0.048
1000Genomes American Sub 694 C=0.945 A=0.055
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9741 A=0.0259
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9741 A=0.0259
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.9543 A=0.0457
Korean Genome Project KOREAN Study-wide 1832 C=0.9498 A=0.0502
HapMap Global Study-wide 1340 C=0.9336 A=0.0664
HapMap American Sub 750 C=0.955 A=0.045
HapMap African Sub 500 C=0.892 A=0.108
HapMap Asian Sub 90 C=0.99 A=0.01
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.970 A=0.030
Northern Sweden ACPOP Study-wide 600 C=0.940 A=0.060
Qatari Global Study-wide 216 C=0.940 A=0.060
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.926 A=0.074
SGDP_PRJ Global Study-wide 82 C=0.41 A=0.59
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 2 NC_000002.12:g.18674C>A
GRCh38.p14 chr 2 NC_000002.12:g.18674C>T
GRCh37.p13 chr 2 NC_000002.11:g.18674C>A
GRCh37.p13 chr 2 NC_000002.11:g.18674C>T
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 C= A T
GRCh38.p14 chr 2 NC_000002.12:g.18674= NC_000002.12:g.18674C>A NC_000002.12:g.18674C>T
GRCh37.p13 chr 2 NC_000002.11:g.18674= NC_000002.11:g.18674C>A NC_000002.11:g.18674C>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#.

76 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 WUGSC_SSAHASNP ss14060059 Dec 05, 2003 (119)
2 ILLUMINA ss75111554 Dec 06, 2007 (129)
3 AFFY ss76498547 Dec 06, 2007 (129)
4 1000GENOMES ss112137793 Jan 25, 2009 (130)
5 ILLUMINA-UK ss117555067 Feb 14, 2009 (130)
6 KRIBB_YJKIM ss119616727 Dec 01, 2009 (131)
7 ILLUMINA ss159876495 Dec 01, 2009 (131)
8 COMPLETE_GENOMICS ss162981126 Jul 04, 2010 (132)
9 ILLUMINA ss169833394 Jul 04, 2010 (132)
10 1000GENOMES ss219013223 Jul 14, 2010 (132)
11 1000GENOMES ss231000609 Jul 14, 2010 (132)
12 ILLUMINA ss479220128 May 04, 2012 (137)
13 ILLUMINA ss479222679 May 04, 2012 (137)
14 ILLUMINA ss479572102 Sep 08, 2015 (146)
15 ILLUMINA ss484410929 May 04, 2012 (137)
16 ILLUMINA ss536588219 Sep 08, 2015 (146)
17 TISHKOFF ss555295633 Apr 25, 2013 (138)
18 SSMP ss648872597 Apr 25, 2013 (138)
19 ILLUMINA ss778726382 Sep 08, 2015 (146)
20 ILLUMINA ss782651892 Sep 08, 2015 (146)
21 ILLUMINA ss783621106 Sep 08, 2015 (146)
22 ILLUMINA ss831902236 Sep 08, 2015 (146)
23 ILLUMINA ss834185828 Sep 08, 2015 (146)
24 EVA-GONL ss976396812 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1068790753 Aug 21, 2014 (142)
26 1000GENOMES ss1295574407 Aug 21, 2014 (142)
27 EVA_DECODE ss1585798209 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1602626785 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1645620818 Apr 01, 2015 (144)
30 EVA_SVP ss1712424416 Apr 01, 2015 (144)
31 ILLUMINA ss1752328998 Sep 08, 2015 (146)
32 HAMMER_LAB ss1796107786 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1919623815 Feb 12, 2016 (147)
34 JJLAB ss2020339319 Sep 14, 2016 (149)
35 ILLUMINA ss2633559899 Nov 08, 2017 (151)
36 GRF ss2702930157 Nov 08, 2017 (151)
37 GNOMAD ss2768814657 Nov 08, 2017 (151)
38 SWEGEN ss2988841601 Nov 08, 2017 (151)
39 CSHL ss3344030023 Nov 08, 2017 (151)
40 ILLUMINA ss3627971986 Oct 11, 2018 (152)
41 ILLUMINA ss3631529653 Oct 11, 2018 (152)
42 ILLUMINA ss3633185519 Oct 11, 2018 (152)
43 ILLUMINA ss3633896489 Oct 11, 2018 (152)
44 ILLUMINA ss3634747321 Oct 11, 2018 (152)
45 ILLUMINA ss3635583097 Oct 11, 2018 (152)
46 ILLUMINA ss3636432377 Oct 11, 2018 (152)
47 ILLUMINA ss3637334884 Oct 11, 2018 (152)
48 ILLUMINA ss3638237570 Oct 11, 2018 (152)
49 ILLUMINA ss3640454625 Oct 11, 2018 (152)
50 ILLUMINA ss3643209482 Oct 11, 2018 (152)
51 EVA_DECODE ss3703083879 Jul 12, 2019 (153)
52 ACPOP ss3728076135 Jul 12, 2019 (153)
53 ILLUMINA ss3745047301 Jul 12, 2019 (153)
54 EVA ss3756245586 Jul 12, 2019 (153)
55 ILLUMINA ss3772544247 Jul 12, 2019 (153)
56 KHV_HUMAN_GENOMES ss3800634309 Jul 12, 2019 (153)
57 SGDP_PRJ ss3851402794 Apr 25, 2020 (154)
58 KRGDB ss3896770450 Apr 25, 2020 (154)
59 KOGIC ss3946946618 Apr 25, 2020 (154)
60 EVA ss4016975236 Apr 25, 2021 (155)
61 TOPMED ss4491455533 Apr 25, 2021 (155)
62 TOMMO_GENOMICS ss5149496969 Apr 25, 2021 (155)
63 1000G_HIGH_COVERAGE ss5246618090 Oct 12, 2022 (156)
64 EVA ss5314702542 Oct 12, 2022 (156)
65 EVA ss5326259104 Oct 12, 2022 (156)
66 HUGCELL_USP ss5446965021 Oct 12, 2022 (156)
67 EVA ss5506268405 Oct 12, 2022 (156)
68 1000G_HIGH_COVERAGE ss5521110137 Oct 12, 2022 (156)
69 SANFORD_IMAGENETICS ss5627923460 Oct 12, 2022 (156)
70 TOMMO_GENOMICS ss5677567445 Oct 12, 2022 (156)
71 EVA ss5799519354 Oct 12, 2022 (156)
72 YY_MCH ss5801853340 Oct 12, 2022 (156)
73 EVA ss5819540855 Oct 12, 2022 (156)
74 EVA ss5852352025 Oct 12, 2022 (156)
75 EVA ss5928688369 Oct 12, 2022 (156)
76 EVA ss5954107645 Oct 12, 2022 (156)
77 1000Genomes NC_000002.11 - 18674 Oct 11, 2018 (152)
78 1000Genomes_30x NC_000002.12 - 18674 Oct 12, 2022 (156)
79 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 18674 Oct 11, 2018 (152)
80 gnomAD - Genomes NC_000002.12 - 18674 Apr 25, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000002.11 - 18674 Apr 25, 2020 (154)
82 HapMap NC_000002.12 - 18674 Apr 25, 2020 (154)
83 KOREAN population from KRGDB NC_000002.11 - 18674 Apr 25, 2020 (154)
84 Korean Genome Project NC_000002.12 - 18674 Apr 25, 2020 (154)
85 Northern Sweden NC_000002.11 - 18674 Jul 12, 2019 (153)
86 Qatari NC_000002.11 - 18674 Apr 25, 2020 (154)
87 SGDP_PRJ NC_000002.11 - 18674 Apr 25, 2020 (154)
88 8.3KJPN NC_000002.11 - 18674 Apr 25, 2021 (155)
89 14KJPN NC_000002.12 - 18674 Oct 12, 2022 (156)
90 TopMed NC_000002.12 - 18674 Apr 25, 2021 (155)
91 UK 10K study - Twins NC_000002.11 - 18674 Oct 11, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000002.11 - 18674 Jul 12, 2019 (153)
93 ALFA NC_000002.12 - 18674 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss112137793, ss117555067, ss162981126, ss479220128, ss1585798209, ss1712424416, ss3643209482 NC_000002.10:8673:C:A NC_000002.12:18673:C:A (self)
6464282, 3576868, 1572260, 3947844, 1361000, 1665745, 3419774, 7466276, 3576868, 780709, ss219013223, ss231000609, ss479222679, ss479572102, ss484410929, ss536588219, ss555295633, ss648872597, ss778726382, ss782651892, ss783621106, ss831902236, ss834185828, ss976396812, ss1068790753, ss1295574407, ss1602626785, ss1645620818, ss1752328998, ss1796107786, ss1919623815, ss2020339319, ss2633559899, ss2702930157, ss2768814657, ss2988841601, ss3344030023, ss3627971986, ss3631529653, ss3633185519, ss3633896489, ss3634747321, ss3635583097, ss3636432377, ss3637334884, ss3638237570, ss3640454625, ss3728076135, ss3745047301, ss3756245586, ss3772544247, ss3851402794, ss3896770450, ss4016975236, ss5149496969, ss5314702542, ss5326259104, ss5506268405, ss5627923460, ss5799519354, ss5819540855, ss5954107645 NC_000002.11:18673:C:A NC_000002.12:18673:C:A (self)
8636072, 46149903, 1718360, 3324619, 11404549, 295278412, 2487906758, ss3703083879, ss3800634309, ss3946946618, ss4491455533, ss5246618090, ss5446965021, ss5521110137, ss5677567445, ss5801853340, ss5852352025, ss5928688369 NC_000002.12:18673:C:A NC_000002.12:18673:C:A (self)
ss75111554, ss76498547, ss119616727, ss159876495, ss169833394 NT_022221.13:8673:C:A NC_000002.12:18673:C:A (self)
ss14060059 NT_022327.13:8673:C:A NC_000002.12:18673:C:A (self)
8636072, ss5521110137 NC_000002.12:18673:C:T NC_000002.12:18673:C:T
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 rs10195681

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