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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.

rs10923970

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:116075832 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.058752 (15551/264690, TOPMED)
G=0.061236 (12345/201596, ALFA)
G=0.061079 (8564/140212, GnomAD) (+ 20 more)
G=0.17387 (4913/28256, 14KJPN)
G=0.17434 (2922/16760, 8.3KJPN)
G=0.0789 (505/6404, 1000G_30x)
G=0.0811 (406/5008, 1000G)
G=0.0761 (341/4480, Estonian)
G=0.0654 (252/3854, ALSPAC)
G=0.0561 (208/3708, TWINSUK)
G=0.1564 (458/2928, KOREAN)
G=0.0840 (175/2084, HGDP_Stanford)
G=0.0981 (185/1886, HapMap)
G=0.1550 (284/1832, Korea1K)
G=0.067 (67/998, GoNL)
G=0.058 (35/600, NorthernSweden)
G=0.060 (13/216, Qatari)
G=0.032 (7/216, Vietnamese)
A=0.45 (45/100, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
A=0.50 (7/14, Siberian)
G=0.50 (7/14, Siberian)
G=0.0 (0/4, Ancient Sardinia)
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 201596 A=0.938764 G=0.061236
European Sub 174366 A=0.939627 G=0.060373
African Sub 7090 A=0.9478 G=0.0522
African Others Sub 262 A=0.947 G=0.053
African American Sub 6828 A=0.9479 G=0.0521
Asian Sub 698 A=0.874 G=0.126
East Asian Sub 552 A=0.868 G=0.132
Other Asian Sub 146 A=0.897 G=0.103
Latin American 1 Sub 838 A=0.932 G=0.068
Latin American 2 Sub 6886 A=0.9473 G=0.0527
South Asian Sub 5042 A=0.9024 G=0.0976
Other Sub 6676 A=0.9329 G=0.0671


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 A=0.941248 G=0.058752
Allele Frequency Aggregator Total Global 201596 A=0.938764 G=0.061236
Allele Frequency Aggregator European Sub 174366 A=0.939627 G=0.060373
Allele Frequency Aggregator African Sub 7090 A=0.9478 G=0.0522
Allele Frequency Aggregator Latin American 2 Sub 6886 A=0.9473 G=0.0527
Allele Frequency Aggregator Other Sub 6676 A=0.9329 G=0.0671
Allele Frequency Aggregator South Asian Sub 5042 A=0.9024 G=0.0976
Allele Frequency Aggregator Latin American 1 Sub 838 A=0.932 G=0.068
Allele Frequency Aggregator Asian Sub 698 A=0.874 G=0.126
gnomAD - Genomes Global Study-wide 140212 A=0.938921 G=0.061079
gnomAD - Genomes European Sub 75926 A=0.93502 G=0.06498
gnomAD - Genomes African Sub 42026 A=0.94423 G=0.05577
gnomAD - Genomes American Sub 13656 A=0.95438 G=0.04562
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9305 G=0.0695
gnomAD - Genomes East Asian Sub 3128 A=0.9063 G=0.0937
gnomAD - Genomes Other Sub 2152 A=0.9354 G=0.0646
14KJPN JAPANESE Study-wide 28256 A=0.82613 G=0.17387
8.3KJPN JAPANESE Study-wide 16760 A=0.82566 G=0.17434
1000Genomes_30x Global Study-wide 6404 A=0.9211 G=0.0789
1000Genomes_30x African Sub 1786 A=0.9317 G=0.0683
1000Genomes_30x Europe Sub 1266 A=0.9281 G=0.0719
1000Genomes_30x South Asian Sub 1202 A=0.9027 G=0.0973
1000Genomes_30x East Asian Sub 1170 A=0.8923 G=0.1077
1000Genomes_30x American Sub 980 A=0.950 G=0.050
1000Genomes Global Study-wide 5008 A=0.9189 G=0.0811
1000Genomes African Sub 1322 A=0.9251 G=0.0749
1000Genomes East Asian Sub 1008 A=0.8859 G=0.1141
1000Genomes Europe Sub 1006 A=0.9334 G=0.0666
1000Genomes South Asian Sub 978 A=0.909 G=0.091
1000Genomes American Sub 694 A=0.948 G=0.052
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9239 G=0.0761
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9346 G=0.0654
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9439 G=0.0561
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.8436 G=0.1564
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.9160 G=0.0840
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.879 G=0.121
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.865 G=0.135
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.926 G=0.074
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.950 G=0.050
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.938 G=0.062
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.977 G=0.023
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
HapMap Global Study-wide 1886 A=0.9019 G=0.0981
HapMap American Sub 768 A=0.909 G=0.091
HapMap African Sub 690 A=0.906 G=0.094
HapMap Asian Sub 252 A=0.845 G=0.155
HapMap Europe Sub 176 A=0.938 G=0.062
Korean Genome Project KOREAN Study-wide 1832 A=0.8450 G=0.1550
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.933 G=0.067
Northern Sweden ACPOP Study-wide 600 A=0.942 G=0.058
Qatari Global Study-wide 216 A=0.940 G=0.060
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.968 G=0.032
SGDP_PRJ Global Study-wide 100 A=0.45 G=0.55
The Danish reference pan genome Danish Study-wide 40 A=0.85 G=0.15
Siberian Global Study-wide 14 A=0.50 G=0.50
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 4 A=1.0 G=0.0
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 1 NC_000001.11:g.116075832A>G
GRCh37.p13 chr 1 NC_000001.10:g.116618453A>G
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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.116075832= NC_000001.11:g.116075832A>G
GRCh37.p13 chr 1 NC_000001.10:g.116618453= NC_000001.10:g.116618453A>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#.

108 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17370204 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss19867012 Feb 27, 2004 (120)
3 PERLEGEN ss23857989 Sep 20, 2004 (123)
4 ABI ss43838369 Mar 15, 2006 (126)
5 ILLUMINA ss66602527 Nov 30, 2006 (127)
6 ILLUMINA ss66910311 Nov 30, 2006 (127)
7 ILLUMINA ss67041258 Nov 30, 2006 (127)
8 PERLEGEN ss68778924 May 17, 2007 (127)
9 ILLUMINA ss70384723 May 17, 2007 (127)
10 ILLUMINA ss70507903 May 25, 2008 (130)
11 ILLUMINA ss71034808 May 17, 2007 (127)
12 ILLUMINA ss75459508 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss85032229 Dec 15, 2007 (130)
14 HGSV ss86107160 Dec 15, 2007 (130)
15 BGI ss102777763 Dec 01, 2009 (131)
16 ILLUMINA ss121417655 Dec 01, 2009 (131)
17 ILLUMINA ss152876186 Dec 01, 2009 (131)
18 GMI ss155575228 Dec 01, 2009 (131)
19 ILLUMINA ss159153146 Dec 01, 2009 (131)
20 ILLUMINA ss159938982 Dec 01, 2009 (131)
21 ILLUMINA ss169712986 Jul 04, 2010 (132)
22 ILLUMINA ss170758013 Jul 04, 2010 (132)
23 BCM-HGSC-SUB ss205205526 Jul 04, 2010 (132)
24 1000GENOMES ss218614209 Jul 14, 2010 (132)
25 1000GENOMES ss230704803 Jul 14, 2010 (132)
26 1000GENOMES ss238359073 Jul 15, 2010 (132)
27 GMI ss275990603 May 04, 2012 (137)
28 ILLUMINA ss410890200 Sep 17, 2011 (135)
29 ILLUMINA ss479405333 May 04, 2012 (137)
30 ILLUMINA ss479408646 May 04, 2012 (137)
31 ILLUMINA ss479822005 Sep 08, 2015 (146)
32 ILLUMINA ss484502608 May 04, 2012 (137)
33 ILLUMINA ss536653695 Sep 08, 2015 (146)
34 TISHKOFF ss554616111 Apr 25, 2013 (138)
35 SSMP ss648334427 Apr 25, 2013 (138)
36 ILLUMINA ss778746244 Sep 08, 2015 (146)
37 ILLUMINA ss782697862 Sep 08, 2015 (146)
38 ILLUMINA ss783665953 Sep 08, 2015 (146)
39 ILLUMINA ss825354213 Apr 01, 2015 (144)
40 ILLUMINA ss831948952 Sep 08, 2015 (146)
41 ILLUMINA ss832665760 Jul 12, 2019 (153)
42 ILLUMINA ss834205874 Sep 08, 2015 (146)
43 EVA-GONL ss975605181 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1068217937 Aug 21, 2014 (142)
45 1000GENOMES ss1292564128 Aug 21, 2014 (142)
46 DDI ss1425947363 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1574345195 Apr 01, 2015 (144)
48 EVA_DECODE ss1584986937 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1601061824 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1644055857 Apr 01, 2015 (144)
51 EVA_SVP ss1712365805 Apr 01, 2015 (144)
52 ILLUMINA ss1751865628 Sep 08, 2015 (146)
53 HAMMER_LAB ss1794980454 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1918804027 Feb 12, 2016 (147)
55 GENOMED ss1966849399 Jul 19, 2016 (147)
56 JJLAB ss2019927596 Sep 14, 2016 (149)
57 USC_VALOUEV ss2147946527 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2165988595 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2624473073 Nov 08, 2017 (151)
60 ILLUMINA ss2632567491 Nov 08, 2017 (151)
61 GRF ss2697876630 Nov 08, 2017 (151)
62 GNOMAD ss2759936677 Nov 08, 2017 (151)
63 SWEGEN ss2987492430 Nov 08, 2017 (151)
64 ILLUMINA ss3626190695 Oct 11, 2018 (152)
65 ILLUMINA ss3630600934 Oct 11, 2018 (152)
66 ILLUMINA ss3632907469 Oct 11, 2018 (152)
67 ILLUMINA ss3633602662 Oct 11, 2018 (152)
68 ILLUMINA ss3634345038 Oct 11, 2018 (152)
69 ILLUMINA ss3635296185 Oct 11, 2018 (152)
70 ILLUMINA ss3636024516 Oct 11, 2018 (152)
71 ILLUMINA ss3637046655 Oct 11, 2018 (152)
72 ILLUMINA ss3637782288 Oct 11, 2018 (152)
73 ILLUMINA ss3638908926 Oct 11, 2018 (152)
74 ILLUMINA ss3639452586 Oct 11, 2018 (152)
75 ILLUMINA ss3640052397 Oct 11, 2018 (152)
76 ILLUMINA ss3642791869 Oct 11, 2018 (152)
77 EGCUT_WGS ss3655583236 Jul 12, 2019 (153)
78 EVA_DECODE ss3687595920 Jul 12, 2019 (153)
79 ACPOP ss3727417657 Jul 12, 2019 (153)
80 ILLUMINA ss3744645981 Jul 12, 2019 (153)
81 EVA ss3746712858 Jul 12, 2019 (153)
82 ILLUMINA ss3772147169 Jul 12, 2019 (153)
83 PACBIO ss3783528961 Jul 12, 2019 (153)
84 PACBIO ss3789169286 Jul 12, 2019 (153)
85 PACBIO ss3794042239 Jul 12, 2019 (153)
86 KHV_HUMAN_GENOMES ss3799714541 Jul 12, 2019 (153)
87 EVA ss3826387465 Apr 25, 2020 (154)
88 HGDP ss3847347523 Apr 25, 2020 (154)
89 SGDP_PRJ ss3849716938 Apr 25, 2020 (154)
90 KRGDB ss3894819505 Apr 25, 2020 (154)
91 KOGIC ss3945313070 Apr 25, 2020 (154)
92 EVA ss3984821486 Apr 25, 2021 (155)
93 EVA ss4016933948 Apr 25, 2021 (155)
94 TOPMED ss4464782090 Apr 25, 2021 (155)
95 TOMMO_GENOMICS ss5145828812 Apr 25, 2021 (155)
96 1000G_HIGH_COVERAGE ss5243722675 Oct 12, 2022 (156)
97 EVA ss5314646412 Oct 12, 2022 (156)
98 EVA ss5321393780 Oct 12, 2022 (156)
99 HUGCELL_USP ss5444635785 Oct 12, 2022 (156)
100 EVA ss5506008337 Oct 12, 2022 (156)
101 1000G_HIGH_COVERAGE ss5516775227 Oct 12, 2022 (156)
102 SANFORD_IMAGENETICS ss5626362976 Oct 12, 2022 (156)
103 TOMMO_GENOMICS ss5671141490 Oct 12, 2022 (156)
104 EVA ss5799496981 Oct 12, 2022 (156)
105 YY_MCH ss5800959437 Oct 12, 2022 (156)
106 EVA ss5832528619 Oct 12, 2022 (156)
107 EVA ss5909932878 Oct 12, 2022 (156)
108 EVA ss5938232841 Oct 12, 2022 (156)
109 1000Genomes NC_000001.10 - 116618453 Oct 11, 2018 (152)
110 1000Genomes_30x NC_000001.11 - 116075832 Oct 12, 2022 (156)
111 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 116618453 Oct 11, 2018 (152)
112 Genetic variation in the Estonian population NC_000001.10 - 116618453 Oct 11, 2018 (152)
113 The Danish reference pan genome NC_000001.10 - 116618453 Apr 25, 2020 (154)
114 gnomAD - Genomes NC_000001.11 - 116075832 Apr 25, 2021 (155)
115 Genome of the Netherlands Release 5 NC_000001.10 - 116618453 Apr 25, 2020 (154)
116 HGDP-CEPH-db Supplement 1 NC_000001.9 - 116419976 Apr 25, 2020 (154)
117 HapMap NC_000001.11 - 116075832 Apr 25, 2020 (154)
118 KOREAN population from KRGDB NC_000001.10 - 116618453 Apr 25, 2020 (154)
119 Korean Genome Project NC_000001.11 - 116075832 Apr 25, 2020 (154)
120 Northern Sweden NC_000001.10 - 116618453 Jul 12, 2019 (153)
121 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 116618453 Apr 25, 2021 (155)
122 Qatari NC_000001.10 - 116618453 Apr 25, 2020 (154)
123 SGDP_PRJ NC_000001.10 - 116618453 Apr 25, 2020 (154)
124 Siberian NC_000001.10 - 116618453 Apr 25, 2020 (154)
125 8.3KJPN NC_000001.10 - 116618453 Apr 25, 2021 (155)
126 14KJPN NC_000001.11 - 116075832 Oct 12, 2022 (156)
127 TopMed NC_000001.11 - 116075832 Apr 25, 2021 (155)
128 UK 10K study - Twins NC_000001.10 - 116618453 Oct 11, 2018 (152)
129 A Vietnamese Genetic Variation Database NC_000001.10 - 116618453 Jul 12, 2019 (153)
130 ALFA NC_000001.11 - 116075832 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)
rs59258286 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss86107160, ss3638908926, ss3639452586 NC_000001.8:116330494:A:G NC_000001.11:116075831:A:G (self)
25415, ss205205526, ss275990603, ss479405333, ss825354213, ss1584986937, ss1712365805, ss3642791869, ss3847347523 NC_000001.9:116419975:A:G NC_000001.11:116075831:A:G (self)
3344657, 1852582, 1321484, 1678486, 805619, 1996899, 702522, 47413, 845957, 1733918, 462881, 3798119, 1852582, 400661, ss218614209, ss230704803, ss238359073, ss479408646, ss479822005, ss484502608, ss536653695, ss554616111, ss648334427, ss778746244, ss782697862, ss783665953, ss831948952, ss832665760, ss834205874, ss975605181, ss1068217937, ss1292564128, ss1425947363, ss1574345195, ss1601061824, ss1644055857, ss1751865628, ss1794980454, ss1918804027, ss1966849399, ss2019927596, ss2147946527, ss2624473073, ss2632567491, ss2697876630, ss2759936677, ss2987492430, ss3626190695, ss3630600934, ss3632907469, ss3633602662, ss3634345038, ss3635296185, ss3636024516, ss3637046655, ss3637782288, ss3640052397, ss3655583236, ss3727417657, ss3744645981, ss3746712858, ss3772147169, ss3783528961, ss3789169286, ss3794042239, ss3826387465, ss3849716938, ss3894819505, ss3984821486, ss4016933948, ss5145828812, ss5314646412, ss5321393780, ss5506008337, ss5626362976, ss5799496981, ss5832528619, ss5938232841 NC_000001.10:116618452:A:G NC_000001.11:116075831:A:G (self)
4301162, 23655382, 161802, 1691071, 4978594, 28388425, 5215392410, ss2165988595, ss3687595920, ss3799714541, ss3945313070, ss4464782090, ss5243722675, ss5444635785, ss5516775227, ss5671141490, ss5800959437, ss5909932878 NC_000001.11:116075831:A:G NC_000001.11:116075831:A:G (self)
ss17370204, ss19867012 NT_004754.15:534037:A:G NC_000001.11:116075831:A:G (self)
ss23857989, ss43838369, ss66602527, ss66910311, ss67041258, ss68778924, ss70384723, ss70507903, ss71034808, ss75459508, ss85032229, ss102777763, ss121417655, ss152876186, ss155575228, ss159153146, ss159938982, ss169712986, ss170758013, ss410890200 NT_032977.9:86590370:A:G NC_000001.11:116075831:A:G (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 rs10923970

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