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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.

rs17410962

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:19990569 (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=0.149518 (39576/264690, TOPMED)
A=0.147705 (20694/140104, GnomAD)
A=0.15476 (12180/78700, PAGE_STUDY) (+ 22 more)
A=0.12782 (3612/28258, 14KJPN)
A=0.12780 (3307/25876, ALFA)
A=0.12846 (2153/16760, 8.3KJPN)
A=0.1513 (969/6404, 1000G_30x)
A=0.1486 (744/5008, 1000G)
A=0.0712 (319/4480, Estonian)
A=0.1183 (456/3854, ALSPAC)
A=0.1265 (469/3708, TWINSUK)
A=0.1201 (352/2930, KOREAN)
A=0.1554 (294/1892, HapMap)
A=0.1166 (132/1132, Daghestan)
A=0.134 (134/998, GoNL)
A=0.072 (57/790, PRJEB37584)
A=0.094 (59/626, Chileans)
A=0.092 (55/600, NorthernSweden)
A=0.139 (30/216, Qatari)
A=0.085 (18/212, Vietnamese)
G=0.438 (49/112, SGDP_PRJ)
A=0.13 (6/46, Ancient Sardinia)
A=0.10 (4/40, GENOME_DK)
G=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
4 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 25876 G=0.87220 A=0.12780 0.761942 0.017545 0.220513 1
European Sub 17476 G=0.88407 A=0.11593 0.783246 0.015106 0.201648 2
African Sub 3630 G=0.7887 A=0.2113 0.613774 0.036364 0.349862 3
African Others Sub 126 G=0.817 A=0.183 0.650794 0.015873 0.333333 1
African American Sub 3504 G=0.7877 A=0.2123 0.612443 0.0371 0.350457 3
Asian Sub 194 G=0.866 A=0.134 0.731959 0.0 0.268041 2
East Asian Sub 136 G=0.846 A=0.154 0.691176 0.0 0.308824 2
Other Asian Sub 58 G=0.91 A=0.09 0.827586 0.0 0.172414 0
Latin American 1 Sub 292 G=0.880 A=0.120 0.773973 0.013699 0.212329 0
Latin American 2 Sub 2768 G=0.9072 A=0.0928 0.822254 0.007948 0.169798 0
South Asian Sub 116 G=0.862 A=0.138 0.758621 0.034483 0.206897 1
Other Sub 1400 G=0.8714 A=0.1286 0.762857 0.02 0.217143 0


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=0.850482 A=0.149518
gnomAD - Genomes Global Study-wide 140104 G=0.852295 A=0.147705
gnomAD - Genomes European Sub 75894 G=0.88132 A=0.11868
gnomAD - Genomes African Sub 41958 G=0.78505 A=0.21495
gnomAD - Genomes American Sub 13646 G=0.88898 A=0.11102
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.8390 A=0.1610
gnomAD - Genomes East Asian Sub 3132 G=0.8950 A=0.1050
gnomAD - Genomes Other Sub 2150 G=0.8656 A=0.1344
The PAGE Study Global Study-wide 78700 G=0.84524 A=0.15476
The PAGE Study AfricanAmerican Sub 32514 G=0.79132 A=0.20868
The PAGE Study Mexican Sub 10810 G=0.91323 A=0.08677
The PAGE Study Asian Sub 8318 G=0.8812 A=0.1188
The PAGE Study PuertoRican Sub 7918 G=0.8606 A=0.1394
The PAGE Study NativeHawaiian Sub 4534 G=0.9056 A=0.0944
The PAGE Study Cuban Sub 4230 G=0.8508 A=0.1492
The PAGE Study Dominican Sub 3828 G=0.8380 A=0.1620
The PAGE Study CentralAmerican Sub 2450 G=0.8988 A=0.1012
The PAGE Study SouthAmerican Sub 1982 G=0.8976 A=0.1024
The PAGE Study NativeAmerican Sub 1260 G=0.8913 A=0.1087
The PAGE Study SouthAsian Sub 856 G=0.886 A=0.114
14KJPN JAPANESE Study-wide 28258 G=0.87218 A=0.12782
Allele Frequency Aggregator Total Global 25876 G=0.87220 A=0.12780
Allele Frequency Aggregator European Sub 17476 G=0.88407 A=0.11593
Allele Frequency Aggregator African Sub 3630 G=0.7887 A=0.2113
Allele Frequency Aggregator Latin American 2 Sub 2768 G=0.9072 A=0.0928
Allele Frequency Aggregator Other Sub 1400 G=0.8714 A=0.1286
Allele Frequency Aggregator Latin American 1 Sub 292 G=0.880 A=0.120
Allele Frequency Aggregator Asian Sub 194 G=0.866 A=0.134
Allele Frequency Aggregator South Asian Sub 116 G=0.862 A=0.138
8.3KJPN JAPANESE Study-wide 16760 G=0.87154 A=0.12846
1000Genomes_30x Global Study-wide 6404 G=0.8487 A=0.1513
1000Genomes_30x African Sub 1786 G=0.7693 A=0.2307
1000Genomes_30x Europe Sub 1266 G=0.8286 A=0.1714
1000Genomes_30x South Asian Sub 1202 G=0.9068 A=0.0932
1000Genomes_30x East Asian Sub 1170 G=0.8821 A=0.1179
1000Genomes_30x American Sub 980 G=0.908 A=0.092
1000Genomes Global Study-wide 5008 G=0.8514 A=0.1486
1000Genomes African Sub 1322 G=0.7700 A=0.2300
1000Genomes East Asian Sub 1008 G=0.8810 A=0.1190
1000Genomes Europe Sub 1006 G=0.8360 A=0.1640
1000Genomes South Asian Sub 978 G=0.907 A=0.093
1000Genomes American Sub 694 G=0.908 A=0.092
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9288 A=0.0712
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8817 A=0.1183
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8735 A=0.1265
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8799 A=0.1201
HapMap Global Study-wide 1892 G=0.8446 A=0.1554
HapMap American Sub 770 G=0.864 A=0.136
HapMap African Sub 692 G=0.818 A=0.182
HapMap Asian Sub 254 G=0.890 A=0.110
HapMap Europe Sub 176 G=0.801 A=0.199
Genome-wide autozygosity in Daghestan Global Study-wide 1132 G=0.8834 A=0.1166
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.917 A=0.083
Genome-wide autozygosity in Daghestan Near_East Sub 142 G=0.817 A=0.183
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.869 A=0.131
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.833 A=0.167
Genome-wide autozygosity in Daghestan South Asian Sub 96 G=0.84 A=0.16
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.86 A=0.14
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.866 A=0.134
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.928 A=0.072
CNV burdens in cranial meningiomas CRM Sub 790 G=0.928 A=0.072
Chileans Chilean Study-wide 626 G=0.906 A=0.094
Northern Sweden ACPOP Study-wide 600 G=0.908 A=0.092
Qatari Global Study-wide 216 G=0.861 A=0.139
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.915 A=0.085
SGDP_PRJ Global Study-wide 112 G=0.438 A=0.562
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 46 G=0.87 A=0.13
The Danish reference pan genome Danish Study-wide 40 G=0.90 A=0.10
Siberian Global Study-wide 6 G=0.5 A=0.5
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.19990569G>A
GRCh37.p13 chr 8 NC_000008.10:g.19848080G>A
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 8 NC_000008.11:g.19990569= NC_000008.11:g.19990569G>A
GRCh37.p13 chr 8 NC_000008.10:g.19848080= NC_000008.10:g.19848080G>A
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#.

72 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss24648987 Sep 20, 2004 (123)
2 AFFY ss66485237 Nov 29, 2006 (127)
3 AFFY ss76305039 Dec 07, 2007 (129)
4 KRIBB_YJKIM ss83243735 Dec 15, 2007 (130)
5 1000GENOMES ss115100132 Jan 25, 2009 (130)
6 COMPLETE_GENOMICS ss164132068 Jul 04, 2010 (132)
7 AFFY ss173195958 Jul 04, 2010 (132)
8 BUSHMAN ss198888515 Jul 04, 2010 (132)
9 1000GENOMES ss223585846 Jul 14, 2010 (132)
10 1000GENOMES ss234352612 Jul 15, 2010 (132)
11 1000GENOMES ss241227402 Jul 15, 2010 (132)
12 ILLUMINA ss244283635 Jul 04, 2010 (132)
13 BL ss254171724 May 09, 2011 (134)
14 GMI ss279724128 May 04, 2012 (137)
15 ILLUMINA ss410878726 Sep 17, 2011 (135)
16 TISHKOFF ss560600355 Apr 25, 2013 (138)
17 SSMP ss655035753 Apr 25, 2013 (138)
18 EVA-GONL ss985272956 Aug 21, 2014 (142)
19 JMKIDD_LAB ss1075340305 Aug 21, 2014 (142)
20 1000GENOMES ss1328916345 Aug 21, 2014 (142)
21 HAMMER_LAB ss1397520235 Sep 08, 2015 (146)
22 EVA_GENOME_DK ss1582593882 Apr 01, 2015 (144)
23 EVA_DECODE ss1594862608 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1620134372 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1663128405 Apr 01, 2015 (144)
26 EVA_SVP ss1713021137 Apr 01, 2015 (144)
27 WEILL_CORNELL_DGM ss1928562710 Feb 12, 2016 (147)
28 ILLUMINA ss1959093978 Feb 12, 2016 (147)
29 JJLAB ss2024980734 Sep 14, 2016 (149)
30 USC_VALOUEV ss2153202175 Dec 20, 2016 (150)
31 HUMAN_LONGEVITY ss2301290508 Dec 20, 2016 (150)
32 GRF ss2708962678 Nov 08, 2017 (151)
33 GNOMAD ss2864096147 Nov 08, 2017 (151)
34 SWEGEN ss3002804890 Nov 08, 2017 (151)
35 ILLUMINA ss3022826172 Nov 08, 2017 (151)
36 BIOINF_KMB_FNS_UNIBA ss3026281197 Nov 08, 2017 (151)
37 CSHL ss3348082162 Nov 08, 2017 (151)
38 ILLUMINA ss3653367137 Oct 12, 2018 (152)
39 EGCUT_WGS ss3670484939 Jul 13, 2019 (153)
40 EVA_DECODE ss3721556030 Jul 13, 2019 (153)
41 ILLUMINA ss3726520434 Jul 13, 2019 (153)
42 ACPOP ss3735467315 Jul 13, 2019 (153)
43 EVA ss3767718097 Jul 13, 2019 (153)
44 PAGE_CC ss3771428758 Jul 13, 2019 (153)
45 PACBIO ss3786087451 Jul 13, 2019 (153)
46 PACBIO ss3791353852 Jul 13, 2019 (153)
47 PACBIO ss3796235022 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3810881628 Jul 13, 2019 (153)
49 EVA ss3831055086 Apr 26, 2020 (154)
50 SGDP_PRJ ss3869437293 Apr 26, 2020 (154)
51 KRGDB ss3916863137 Apr 26, 2020 (154)
52 EVA ss3984602278 Apr 27, 2021 (155)
53 EVA ss3985347149 Apr 27, 2021 (155)
54 TOPMED ss4778102727 Apr 27, 2021 (155)
55 TOMMO_GENOMICS ss5187655626 Apr 27, 2021 (155)
56 EVA ss5237438142 Apr 27, 2021 (155)
57 1000G_HIGH_COVERAGE ss5276331211 Oct 14, 2022 (156)
58 EVA ss5379644084 Oct 14, 2022 (156)
59 HUGCELL_USP ss5472981804 Oct 14, 2022 (156)
60 EVA ss5509275605 Oct 14, 2022 (156)
61 1000G_HIGH_COVERAGE ss5566255568 Oct 14, 2022 (156)
62 SANFORD_IMAGENETICS ss5624688027 Oct 14, 2022 (156)
63 SANFORD_IMAGENETICS ss5644924471 Oct 14, 2022 (156)
64 TOMMO_GENOMICS ss5729272585 Oct 14, 2022 (156)
65 YY_MCH ss5809516963 Oct 14, 2022 (156)
66 EVA ss5830224862 Oct 14, 2022 (156)
67 EVA ss5847335315 Oct 14, 2022 (156)
68 EVA ss5848169583 Oct 14, 2022 (156)
69 EVA ss5856287204 Oct 14, 2022 (156)
70 EVA ss5888022718 Oct 14, 2022 (156)
71 EVA ss5974104986 Oct 14, 2022 (156)
72 EVA ss5979856523 Oct 14, 2022 (156)
73 1000Genomes NC_000008.10 - 19848080 Oct 12, 2018 (152)
74 1000Genomes_30x NC_000008.11 - 19990569 Oct 14, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19848080 Oct 12, 2018 (152)
76 Chileans NC_000008.10 - 19848080 Apr 26, 2020 (154)
77 Genome-wide autozygosity in Daghestan NC_000008.9 - 19892360 Apr 26, 2020 (154)
78 Genetic variation in the Estonian population NC_000008.10 - 19848080 Oct 12, 2018 (152)
79 The Danish reference pan genome NC_000008.10 - 19848080 Apr 26, 2020 (154)
80 gnomAD - Genomes NC_000008.11 - 19990569 Apr 27, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000008.10 - 19848080 Apr 26, 2020 (154)
82 HapMap NC_000008.11 - 19990569 Apr 26, 2020 (154)
83 KOREAN population from KRGDB NC_000008.10 - 19848080 Apr 26, 2020 (154)
84 Northern Sweden NC_000008.10 - 19848080 Jul 13, 2019 (153)
85 The PAGE Study NC_000008.11 - 19990569 Jul 13, 2019 (153)
86 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 19848080 Apr 27, 2021 (155)
87 CNV burdens in cranial meningiomas NC_000008.10 - 19848080 Apr 27, 2021 (155)
88 Qatari NC_000008.10 - 19848080 Apr 26, 2020 (154)
89 SGDP_PRJ NC_000008.10 - 19848080 Apr 26, 2020 (154)
90 Siberian NC_000008.10 - 19848080 Apr 26, 2020 (154)
91 8.3KJPN NC_000008.10 - 19848080 Apr 27, 2021 (155)
92 14KJPN NC_000008.11 - 19990569 Oct 14, 2022 (156)
93 TopMed NC_000008.11 - 19990569 Apr 27, 2021 (155)
94 UK 10K study - Twins NC_000008.10 - 19848080 Oct 12, 2018 (152)
95 A Vietnamese Genetic Variation Database NC_000008.10 - 19848080 Jul 13, 2019 (153)
96 ALFA NC_000008.11 - 19990569 Apr 27, 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)
rs58960331 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
494129, ss66485237, ss76305039, ss115100132, ss164132068, ss173195958, ss198888515, ss254171724, ss279724128, ss1397520235, ss1594862608, ss1713021137 NC_000008.9:19892359:G:A NC_000008.11:19990568:G:A (self)
41011129, 22797811, 429659, 16223187, 8758820, 10187269, 24040531, 8752180, 573076, 151714, 10604640, 21454273, 5718529, 45624933, 22797811, 5083615, ss223585846, ss234352612, ss241227402, ss560600355, ss655035753, ss985272956, ss1075340305, ss1328916345, ss1582593882, ss1620134372, ss1663128405, ss1928562710, ss1959093978, ss2024980734, ss2153202175, ss2708962678, ss2864096147, ss3002804890, ss3022826172, ss3348082162, ss3653367137, ss3670484939, ss3735467315, ss3767718097, ss3786087451, ss3791353852, ss3796235022, ss3831055086, ss3869437293, ss3916863137, ss3984602278, ss3985347149, ss5187655626, ss5237438142, ss5379644084, ss5509275605, ss5624688027, ss5644924471, ss5830224862, ss5847335315, ss5848169583, ss5974104986, ss5979856523 NC_000008.10:19848079:G:A NC_000008.11:19990568:G:A (self)
53781503, 289203092, 3581088, 650227, 63109689, 615480287, 8058840042, ss2301290508, ss3026281197, ss3721556030, ss3726520434, ss3771428758, ss3810881628, ss4778102727, ss5276331211, ss5472981804, ss5566255568, ss5729272585, ss5809516963, ss5856287204, ss5888022718 NC_000008.11:19990568:G:A NC_000008.11:19990568:G:A (self)
ss24648987, ss83243735, ss244283635, ss410878726 NT_167187.1:7706225:G:A NC_000008.11:19990568: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.

4 citations for rs17410962
PMID Title Author Year Journal
20018038 Evaluation of genetic risk scores for lipid levels using genome-wide markers in the Framingham Heart Study. Piccolo SR et al. 2009 BMC proceedings
20018089 Toward the identification of causal genes in complex diseases: a gene-centric joint test of significance combining genomic and transcriptomic data. Charlesworth JC et al. 2009 BMC proceedings
20370913 Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. Ma L et al. 2010 BMC medical genetics
25464127 On the analysis of a repeated measure design in genome-wide association analysis. Lee Y et al. 2014 International journal of environmental research and public health
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.post820+afb47a3d