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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.

rs17702901

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:92387181 (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=0.064940 (17189/264690, TOPMED)
A=0.051932 (7280/140184, GnomAD)
A=0.15022 (4245/28258, 14KJPN) (+ 20 more)
A=0.04602 (896/19468, ALFA)
A=0.15388 (2579/16760, 8.3KJPN)
A=0.0928 (594/6404, 1000G_30x)
A=0.0921 (461/5008, 1000G)
A=0.0344 (154/4480, Estonian)
A=0.0392 (151/3854, ALSPAC)
A=0.0334 (124/3708, TWINSUK)
A=0.1335 (390/2922, KOREAN)
A=0.1414 (259/1832, Korea1K)
A=0.030 (30/998, GoNL)
A=0.124 (98/790, PRJEB37584)
A=0.027 (16/600, NorthernSweden)
A=0.067 (22/326, HapMap)
A=0.019 (4/216, Qatari)
A=0.137 (29/212, Vietnamese)
G=0.406 (52/128, SGDP_PRJ)
A=0.02 (2/98, Ancient Sardinia)
A=0.03 (1/40, GENOME_DK)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)
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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 19468 G=0.95398 A=0.04602 0.912883 0.004931 0.082186 22
European Sub 14286 G=0.96584 A=0.03416 0.933081 0.0014 0.065519 0
African Sub 3372 G=0.9546 A=0.0454 0.911032 0.001779 0.087189 0
African Others Sub 114 G=0.982 A=0.018 0.964912 0.0 0.035088 0
African American Sub 3258 G=0.9537 A=0.0463 0.909147 0.001842 0.089012 0
Asian Sub 112 G=0.848 A=0.152 0.732143 0.035714 0.232143 0
East Asian Sub 86 G=0.86 A=0.14 0.744186 0.023256 0.232558 0
Other Asian Sub 26 G=0.81 A=0.19 0.692308 0.076923 0.230769 1
Latin American 1 Sub 146 G=0.932 A=0.068 0.863014 0.0 0.136986 0
Latin American 2 Sub 610 G=0.736 A=0.264 0.563934 0.091803 0.344262 3
South Asian Sub 98 G=0.87 A=0.13 0.755102 0.020408 0.22449 0
Other Sub 844 G=0.936 A=0.064 0.881517 0.009479 0.109005 2


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=0.935060 A=0.064940
gnomAD - Genomes Global Study-wide 140184 G=0.948068 A=0.051932
gnomAD - Genomes European Sub 75918 G=0.96486 A=0.03514
gnomAD - Genomes African Sub 42004 G=0.95643 A=0.04357
gnomAD - Genomes American Sub 13660 G=0.84429 A=0.15571
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9768 A=0.0232
gnomAD - Genomes East Asian Sub 3130 G=0.8623 A=0.1377
gnomAD - Genomes Other Sub 2150 G=0.9316 A=0.0684
14KJPN JAPANESE Study-wide 28258 G=0.84978 A=0.15022
Allele Frequency Aggregator Total Global 19468 G=0.95398 A=0.04602
Allele Frequency Aggregator European Sub 14286 G=0.96584 A=0.03416
Allele Frequency Aggregator African Sub 3372 G=0.9546 A=0.0454
Allele Frequency Aggregator Other Sub 844 G=0.936 A=0.064
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.736 A=0.264
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.932 A=0.068
Allele Frequency Aggregator Asian Sub 112 G=0.848 A=0.152
Allele Frequency Aggregator South Asian Sub 98 G=0.87 A=0.13
8.3KJPN JAPANESE Study-wide 16760 G=0.84612 A=0.15388
1000Genomes_30x Global Study-wide 6404 G=0.9072 A=0.0928
1000Genomes_30x African Sub 1786 G=0.9597 A=0.0403
1000Genomes_30x Europe Sub 1266 G=0.9668 A=0.0332
1000Genomes_30x South Asian Sub 1202 G=0.8910 A=0.1090
1000Genomes_30x East Asian Sub 1170 G=0.8632 A=0.1368
1000Genomes_30x American Sub 980 G=0.807 A=0.193
1000Genomes Global Study-wide 5008 G=0.9079 A=0.0921
1000Genomes African Sub 1322 G=0.9592 A=0.0408
1000Genomes East Asian Sub 1008 G=0.8631 A=0.1369
1000Genomes Europe Sub 1006 G=0.9722 A=0.0278
1000Genomes South Asian Sub 978 G=0.889 A=0.111
1000Genomes American Sub 694 G=0.810 A=0.190
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9656 A=0.0344
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9608 A=0.0392
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9666 A=0.0334
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8665 A=0.1335
Korean Genome Project KOREAN Study-wide 1832 G=0.8586 A=0.1414
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.970 A=0.030
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.876 A=0.124
CNV burdens in cranial meningiomas CRM Sub 790 G=0.876 A=0.124
Northern Sweden ACPOP Study-wide 600 G=0.973 A=0.027
HapMap Global Study-wide 326 G=0.933 A=0.067
HapMap American Sub 120 G=0.950 A=0.050
HapMap African Sub 118 G=0.958 A=0.042
HapMap Asian Sub 88 G=0.88 A=0.12
Qatari Global Study-wide 216 G=0.981 A=0.019
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.863 A=0.137
SGDP_PRJ Global Study-wide 128 G=0.406 A=0.594
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 98 G=0.98 A=0.02
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
Siberian Global Study-wide 12 G=0.50 A=0.50
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 15 NC_000015.10:g.92387181G>A
GRCh37.p13 chr 15 NC_000015.9:g.92930411G>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 15 NC_000015.10:g.92387181= NC_000015.10:g.92387181G>A
GRCh37.p13 chr 15 NC_000015.9:g.92930411= NC_000015.9:g.92930411G>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#.

52 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss24181559 Sep 20, 2004 (123)
2 GMI ss156866532 Dec 01, 2009 (131)
3 1000GENOMES ss227040597 Jul 14, 2010 (132)
4 1000GENOMES ss236881676 Jul 15, 2010 (132)
5 1000GENOMES ss243249625 Jul 15, 2010 (132)
6 GMI ss282365607 May 04, 2012 (137)
7 SSMP ss660398811 Apr 25, 2013 (138)
8 EVA-GONL ss992088718 Aug 21, 2014 (142)
9 1000GENOMES ss1354641061 Aug 21, 2014 (142)
10 EVA_GENOME_DK ss1577754528 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1633627246 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1676621279 Apr 01, 2015 (144)
13 EVA_DECODE ss1696118378 Apr 01, 2015 (144)
14 WEILL_CORNELL_DGM ss1935491257 Feb 12, 2016 (147)
15 GENOMED ss1968175470 Jul 19, 2016 (147)
16 JJLAB ss2028529379 Sep 14, 2016 (149)
17 USC_VALOUEV ss2156938386 Nov 08, 2017 (151)
18 HUMAN_LONGEVITY ss2209159652 Dec 20, 2016 (150)
19 GRF ss2701426273 Nov 08, 2017 (151)
20 GNOMAD ss2938272397 Nov 08, 2017 (151)
21 SWEGEN ss3013763009 Nov 08, 2017 (151)
22 ILLUMINA ss3021662313 Nov 08, 2017 (151)
23 ILLUMINA ss3652065249 Oct 12, 2018 (152)
24 EGCUT_WGS ss3680893244 Jul 13, 2019 (153)
25 EVA_DECODE ss3698473140 Jul 13, 2019 (153)
26 ILLUMINA ss3725525901 Jul 13, 2019 (153)
27 ACPOP ss3741174569 Jul 13, 2019 (153)
28 EVA ss3753453385 Jul 13, 2019 (153)
29 KHV_HUMAN_GENOMES ss3818755333 Jul 13, 2019 (153)
30 SGDP_PRJ ss3883538861 Apr 27, 2020 (154)
31 KRGDB ss3932792284 Apr 27, 2020 (154)
32 KOGIC ss3976752652 Apr 27, 2020 (154)
33 EVA ss3984706325 Apr 27, 2021 (155)
34 EVA ss3985734782 Apr 27, 2021 (155)
35 TOPMED ss5001680211 Apr 27, 2021 (155)
36 TOMMO_GENOMICS ss5217573798 Apr 27, 2021 (155)
37 EVA ss5237556205 Apr 27, 2021 (155)
38 1000G_HIGH_COVERAGE ss5299480301 Oct 16, 2022 (156)
39 EVA ss5421130442 Oct 16, 2022 (156)
40 HUGCELL_USP ss5493088865 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5601398319 Oct 16, 2022 (156)
42 SANFORD_IMAGENETICS ss5624368882 Oct 16, 2022 (156)
43 SANFORD_IMAGENETICS ss5658092773 Oct 16, 2022 (156)
44 TOMMO_GENOMICS ss5771797614 Oct 16, 2022 (156)
45 YY_MCH ss5815593667 Oct 16, 2022 (156)
46 EVA ss5828600978 Oct 16, 2022 (156)
47 EVA ss5847454447 Oct 16, 2022 (156)
48 EVA ss5847755055 Oct 16, 2022 (156)
49 EVA ss5851412413 Oct 16, 2022 (156)
50 EVA ss5877061351 Oct 16, 2022 (156)
51 EVA ss5949517494 Oct 16, 2022 (156)
52 EVA ss5979471311 Oct 16, 2022 (156)
53 1000Genomes NC_000015.9 - 92930411 Oct 12, 2018 (152)
54 1000Genomes_30x NC_000015.10 - 92387181 Oct 16, 2022 (156)
55 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 92930411 Oct 12, 2018 (152)
56 Genetic variation in the Estonian population NC_000015.9 - 92930411 Oct 12, 2018 (152)
57 The Danish reference pan genome NC_000015.9 - 92930411 Apr 27, 2020 (154)
58 gnomAD - Genomes NC_000015.10 - 92387181 Apr 27, 2021 (155)
59 Genome of the Netherlands Release 5 NC_000015.9 - 92930411 Apr 27, 2020 (154)
60 HapMap NC_000015.10 - 92387181 Apr 27, 2020 (154)
61 KOREAN population from KRGDB NC_000015.9 - 92930411 Apr 27, 2020 (154)
62 Korean Genome Project NC_000015.10 - 92387181 Apr 27, 2020 (154)
63 Northern Sweden NC_000015.9 - 92930411 Jul 13, 2019 (153)
64 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000015.9 - 92930411 Apr 27, 2021 (155)
65 CNV burdens in cranial meningiomas NC_000015.9 - 92930411 Apr 27, 2021 (155)
66 Qatari NC_000015.9 - 92930411 Apr 27, 2020 (154)
67 SGDP_PRJ NC_000015.9 - 92930411 Apr 27, 2020 (154)
68 Siberian NC_000015.9 - 92930411 Apr 27, 2020 (154)
69 8.3KJPN NC_000015.9 - 92930411 Apr 27, 2021 (155)
70 14KJPN NC_000015.10 - 92387181 Oct 16, 2022 (156)
71 TopMed NC_000015.10 - 92387181 Apr 27, 2021 (155)
72 UK 10K study - Twins NC_000015.9 - 92930411 Oct 12, 2018 (152)
73 A Vietnamese Genetic Variation Database NC_000015.9 - 92930411 Jul 13, 2019 (153)
74 ALFA NC_000015.10 - 92387181 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss282365607, ss1696118378 NC_000015.8:90731414:G:A NC_000015.10:92387180:G:A (self)
67754453, 37628278, 26631492, 3973527, 16787838, 39969678, 14459434, 960709, 255853, 17533179, 35555841, 9454740, 75543105, 37628278, 8363409, ss227040597, ss236881676, ss243249625, ss660398811, ss992088718, ss1354641061, ss1577754528, ss1633627246, ss1676621279, ss1935491257, ss1968175470, ss2028529379, ss2156938386, ss2701426273, ss2938272397, ss3013763009, ss3021662313, ss3652065249, ss3680893244, ss3741174569, ss3753453385, ss3883538861, ss3932792284, ss3984706325, ss3985734782, ss5217573798, ss5237556205, ss5421130442, ss5624368882, ss5658092773, ss5828600978, ss5847454447, ss5847755055, ss5949517494, ss5979471311 NC_000015.9:92930410:G:A NC_000015.10:92387180:G:A (self)
88924254, 477662949, 1317699, 33130653, 105634718, 217225871, 9376041942, ss2209159652, ss3698473140, ss3725525901, ss3818755333, ss3976752652, ss5001680211, ss5299480301, ss5493088865, ss5601398319, ss5771797614, ss5815593667, ss5851412413, ss5877061351 NC_000015.10:92387180:G:A NC_000015.10:92387180:G:A (self)
ss24181559, ss156866532 NT_010274.17:7895937:G:A NC_000015.10:92387180: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.

No publications for rs17702901

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