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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.

rs10517766

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:162348296 (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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.309800 (82001/264690, TOPMED)
A=0.300094 (41976/139876, GnomAD)
A=0.39345 (11118/28258, 14KJPN) (+ 15 more)
A=0.39242 (6577/16760, 8.3KJPN)
A=0.3254 (3201/9838, ALFA)
A=0.3178 (2035/6404, 1000G_30x)
A=0.3137 (1571/5008, 1000G)
A=0.2431 (1089/4480, Estonian)
A=0.3816 (1118/2930, KOREAN)
A=0.3968 (727/1832, Korea1K)
A=0.260 (259/998, GoNL)
A=0.273 (164/600, NorthernSweden)
A=0.215 (106/492, SGDP_PRJ)
A=0.308 (101/328, HapMap)
A=0.236 (51/216, Qatari)
A=0.379 (81/214, Vietnamese)
A=0.19 (9/48, Siberian)
A=0.17 (7/40, GENOME_DK)
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 9838 A=0.3254 G=0.6746, T=0.0000
European Sub 8532 A=0.2910 G=0.7090, T=0.0000
African Sub 916 A=0.555 G=0.445, T=0.000
African Others Sub 44 A=0.57 G=0.43, T=0.00
African American Sub 872 A=0.554 G=0.446, T=0.000
Asian Sub 18 A=0.83 G=0.17, T=0.00
East Asian Sub 12 A=0.83 G=0.17, T=0.00
Other Asian Sub 6 A=0.8 G=0.2, T=0.0
Latin American 1 Sub 14 A=1.00 G=0.00, T=0.00
Latin American 2 Sub 86 A=1.00 G=0.00, T=0.00
South Asian Sub 8 A=0.5 G=0.5, T=0.0
Other Sub 264 A=0.345 G=0.655, T=0.000


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=0.309800 G=0.690200
gnomAD - Genomes Global Study-wide 139876 A=0.300094 G=0.699906
gnomAD - Genomes European Sub 75820 A=0.25783 G=0.74217
gnomAD - Genomes African Sub 41894 A=0.36046 G=0.63954
gnomAD - Genomes American Sub 13566 A=0.34771 G=0.65229
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2662 G=0.7338
gnomAD - Genomes East Asian Sub 3126 A=0.3468 G=0.6532
gnomAD - Genomes Other Sub 2146 A=0.2982 G=0.7018
14KJPN JAPANESE Study-wide 28258 A=0.39345 G=0.60655
8.3KJPN JAPANESE Study-wide 16760 A=0.39242 G=0.60758
Allele Frequency Aggregator Total Global 9838 A=0.3254 G=0.6746, T=0.0000
Allele Frequency Aggregator European Sub 8532 A=0.2910 G=0.7090, T=0.0000
Allele Frequency Aggregator African Sub 916 A=0.555 G=0.445, T=0.000
Allele Frequency Aggregator Other Sub 264 A=0.345 G=0.655, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 86 A=1.00 G=0.00, T=0.00
Allele Frequency Aggregator Asian Sub 18 A=0.83 G=0.17, T=0.00
Allele Frequency Aggregator Latin American 1 Sub 14 A=1.00 G=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 8 A=0.5 G=0.5, T=0.0
1000Genomes_30x Global Study-wide 6404 A=0.3178 G=0.6822
1000Genomes_30x African Sub 1786 A=0.3768 G=0.6232
1000Genomes_30x Europe Sub 1266 A=0.2591 G=0.7409
1000Genomes_30x South Asian Sub 1202 A=0.2163 G=0.7837
1000Genomes_30x East Asian Sub 1170 A=0.3333 G=0.6667
1000Genomes_30x American Sub 980 A=0.392 G=0.608
1000Genomes Global Study-wide 5008 A=0.3137 G=0.6863
1000Genomes African Sub 1322 A=0.3775 G=0.6225
1000Genomes East Asian Sub 1008 A=0.3244 G=0.6756
1000Genomes Europe Sub 1006 A=0.2575 G=0.7425
1000Genomes South Asian Sub 978 A=0.215 G=0.785
1000Genomes American Sub 694 A=0.398 G=0.602
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.2431 G=0.7569
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3816 G=0.6184
Korean Genome Project KOREAN Study-wide 1832 A=0.3968 G=0.6032
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.260 G=0.740
Northern Sweden ACPOP Study-wide 600 A=0.273 G=0.727
SGDP_PRJ Global Study-wide 492 A=0.215 G=0.785
HapMap Global Study-wide 328 A=0.308 G=0.692
HapMap African Sub 120 A=0.375 G=0.625
HapMap American Sub 120 A=0.233 G=0.767
HapMap Asian Sub 88 A=0.32 G=0.68
Qatari Global Study-wide 216 A=0.236 G=0.764
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.379 G=0.621
Siberian Global Study-wide 48 A=0.19 G=0.81
The Danish reference pan genome Danish Study-wide 40 A=0.17 G=0.82
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 4 NC_000004.12:g.162348296A>G
GRCh38.p14 chr 4 NC_000004.12:g.162348296A>T
GRCh37.p13 chr 4 NC_000004.11:g.163269448A>G
GRCh37.p13 chr 4 NC_000004.11:g.163269448A>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 A= G T
GRCh38.p14 chr 4 NC_000004.12:g.162348296= NC_000004.12:g.162348296A>G NC_000004.12:g.162348296A>T
GRCh37.p13 chr 4 NC_000004.11:g.163269448= NC_000004.11:g.163269448A>G NC_000004.11:g.163269448A>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#.

71 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss14919357 Dec 05, 2003 (119)
2 SSAHASNP ss22141569 Apr 05, 2004 (121)
3 PERLEGEN ss24174111 Sep 20, 2004 (123)
4 ABI ss44512815 Mar 15, 2006 (126)
5 AFFY ss66016628 Dec 02, 2006 (127)
6 HGSV ss80955387 Dec 15, 2007 (130)
7 BCMHGSC_JDW ss92861133 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss98882238 Feb 06, 2009 (130)
9 BGI ss104137916 Dec 01, 2009 (131)
10 1000GENOMES ss108525972 Jan 23, 2009 (130)
11 1000GENOMES ss110918004 Jan 25, 2009 (130)
12 ILLUMINA-UK ss117269253 Feb 14, 2009 (130)
13 ENSEMBL ss135064574 Dec 01, 2009 (131)
14 ENSEMBL ss142468971 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss162733239 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss164909367 Jul 04, 2010 (132)
17 BUSHMAN ss199451661 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss206286264 Jul 04, 2010 (132)
19 1000GENOMES ss221335077 Jul 14, 2010 (132)
20 1000GENOMES ss232690053 Jul 14, 2010 (132)
21 1000GENOMES ss239917678 Jul 15, 2010 (132)
22 GMI ss278023143 May 04, 2012 (137)
23 GMI ss285049114 Apr 25, 2013 (138)
24 PJP ss293241681 May 09, 2011 (134)
25 SSMP ss651820738 Apr 25, 2013 (138)
26 EVA-GONL ss980919975 Aug 21, 2014 (142)
27 1000GENOMES ss1312725230 Aug 21, 2014 (142)
28 DDI ss1430126967 Apr 01, 2015 (144)
29 EVA_GENOME_DK ss1580871983 Apr 01, 2015 (144)
30 HAMMER_LAB ss1802510352 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1924160439 Feb 12, 2016 (147)
32 GENOMED ss1969928018 Jul 19, 2016 (147)
33 JJLAB ss2022668692 Sep 14, 2016 (149)
34 USC_VALOUEV ss2150800882 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2269021440 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2625829001 Nov 08, 2017 (151)
37 GRF ss2706302302 Nov 08, 2017 (151)
38 ILLUMINA ss2711020132 Nov 08, 2017 (151)
39 GNOMAD ss2817867052 Nov 08, 2017 (151)
40 SWEGEN ss2995923188 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3025113083 Nov 08, 2017 (151)
42 CSHL ss3346069065 Nov 08, 2017 (151)
43 URBANLAB ss3647902711 Oct 12, 2018 (152)
44 EGCUT_WGS ss3663837102 Jul 13, 2019 (153)
45 EVA_DECODE ss3713504296 Jul 13, 2019 (153)
46 ACPOP ss3731806797 Jul 13, 2019 (153)
47 EVA ss3762688129 Jul 13, 2019 (153)
48 PACBIO ss3784926790 Jul 13, 2019 (153)
49 PACBIO ss3790353656 Jul 13, 2019 (153)
50 PACBIO ss3795229270 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3805847886 Jul 13, 2019 (153)
52 EVA ss3828925431 Apr 26, 2020 (154)
53 EVA ss3837914184 Apr 26, 2020 (154)
54 EVA ss3843355104 Apr 26, 2020 (154)
55 SGDP_PRJ ss3860532963 Apr 26, 2020 (154)
56 KRGDB ss3906894888 Apr 26, 2020 (154)
57 KOGIC ss3955545612 Apr 26, 2020 (154)
58 TOPMED ss4639957063 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5169032867 Apr 26, 2021 (155)
60 1000G_HIGH_COVERAGE ss5261817747 Oct 13, 2022 (156)
61 EVA ss5353753537 Oct 13, 2022 (156)
62 HUGCELL_USP ss5460289566 Oct 13, 2022 (156)
63 EVA ss5507817214 Oct 13, 2022 (156)
64 1000G_HIGH_COVERAGE ss5544345253 Oct 13, 2022 (156)
65 SANFORD_IMAGENETICS ss5636558851 Oct 13, 2022 (156)
66 TOMMO_GENOMICS ss5704308337 Oct 13, 2022 (156)
67 YY_MCH ss5805735775 Oct 13, 2022 (156)
68 EVA ss5845027898 Oct 13, 2022 (156)
69 EVA ss5854540513 Oct 13, 2022 (156)
70 EVA ss5866413078 Oct 13, 2022 (156)
71 EVA ss5964967715 Oct 13, 2022 (156)
72 1000Genomes NC_000004.11 - 163269448 Oct 12, 2018 (152)
73 1000Genomes_30x NC_000004.12 - 162348296 Oct 13, 2022 (156)
74 Genetic variation in the Estonian population NC_000004.11 - 163269448 Oct 12, 2018 (152)
75 The Danish reference pan genome NC_000004.11 - 163269448 Apr 26, 2020 (154)
76 gnomAD - Genomes NC_000004.12 - 162348296 Apr 26, 2021 (155)
77 Genome of the Netherlands Release 5 NC_000004.11 - 163269448 Apr 26, 2020 (154)
78 HapMap NC_000004.12 - 162348296 Apr 26, 2020 (154)
79 KOREAN population from KRGDB NC_000004.11 - 163269448 Apr 26, 2020 (154)
80 Korean Genome Project NC_000004.12 - 162348296 Apr 26, 2020 (154)
81 Northern Sweden NC_000004.11 - 163269448 Jul 13, 2019 (153)
82 Qatari NC_000004.11 - 163269448 Apr 26, 2020 (154)
83 SGDP_PRJ NC_000004.11 - 163269448 Apr 26, 2020 (154)
84 Siberian NC_000004.11 - 163269448 Apr 26, 2020 (154)
85 8.3KJPN NC_000004.11 - 163269448 Apr 26, 2021 (155)
86 14KJPN NC_000004.12 - 162348296 Oct 13, 2022 (156)
87 TopMed NC_000004.12 - 162348296 Apr 26, 2021 (155)
88 A Vietnamese Genetic Variation Database NC_000004.11 - 163269448 Jul 13, 2019 (153)
89 ALFA NC_000004.12 - 162348296 Apr 26, 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)
rs17600274 Oct 07, 2004 (123)
rs60223010 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80955387 NC_000004.9:163627052:A:G NC_000004.12:162348295:A:G (self)
ss92861133, ss108525972, ss110918004, ss117269253, ss162733239, ss164909367, ss199451661, ss206286264, ss278023143, ss285049114, ss293241681 NC_000004.10:163488897:A:G NC_000004.12:162348295:A:G (self)
24234973, 9575350, 7036922, 5971832, 14072282, 5091662, 6202369, 12549943, 3317236, 27002174, 2976319, ss221335077, ss232690053, ss239917678, ss651820738, ss980919975, ss1312725230, ss1430126967, ss1580871983, ss1802510352, ss1924160439, ss1969928018, ss2022668692, ss2150800882, ss2625829001, ss2706302302, ss2711020132, ss2817867052, ss2995923188, ss3346069065, ss3663837102, ss3731806797, ss3762688129, ss3784926790, ss3790353656, ss3795229270, ss3828925431, ss3837914184, ss3860532963, ss3906894888, ss5169032867, ss5353753537, ss5507817214, ss5636558851, ss5845027898, ss5964967715 NC_000004.11:163269447:A:G NC_000004.12:162348295:A:G (self)
31871188, 171640351, 2749455, 11923613, 38145441, 477334619, 4108261646, ss2269021440, ss3025113083, ss3647902711, ss3713504296, ss3805847886, ss3843355104, ss3955545612, ss4639957063, ss5261817747, ss5460289566, ss5544345253, ss5704308337, ss5805735775, ss5854540513, ss5866413078 NC_000004.12:162348295:A:G NC_000004.12:162348295:A:G (self)
ss14919357, ss24174111, ss44512815, ss66016628, ss98882238, ss104137916, ss135064574, ss142468971 NT_016354.19:87817168:A:G NC_000004.12:162348295:A:G (self)
ss22141569 NT_016606.16:24817503:A:G NC_000004.12:162348295:A:G (self)
4108261646 NC_000004.12:162348295:A:T NC_000004.12:162348295:A:T (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 rs10517766

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