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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.

rs115298665

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:31141521 (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=0.000650 (172/264690, TOPMED)
A=0.000191 (48/251484, GnomAD_exome)
A=0.000063 (12/189944, ALFA) (+ 10 more)
A=0.000742 (104/140148, GnomAD)
A=0.000280 (34/121406, ExAC)
A=0.00102 (80/78698, PAGE_STUDY)
A=0.00018 (5/28258, 14KJPN)
A=0.00018 (3/16760, 8.3KJPN)
A=0.00077 (10/13006, GO-ESP)
A=0.0003 (2/6404, 1000G_30x)
A=0.0004 (2/5008, 1000G)
A=0.0010 (3/2922, KOREAN)
A=0.0011 (2/1832, Korea1K)
Clinical Significance
Reported in ClinVar
Gene : Consequence
WRN : Missense Variant
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 206354 G=0.999908 A=0.000092
European Sub 173902 G=0.999977 A=0.000023
African Sub 9150 G=0.9987 A=0.0013
African Others Sub 352 G=0.997 A=0.003
African American Sub 8798 G=0.9987 A=0.0013
Asian Sub 6294 G=0.9998 A=0.0002
East Asian Sub 4476 G=0.9998 A=0.0002
Other Asian Sub 1818 G=1.0000 A=0.0000
Latin American 1 Sub 796 G=0.999 A=0.001
Latin American 2 Sub 968 G=1.000 A=0.000
South Asian Sub 280 G=1.000 A=0.000
Other Sub 14964 G=0.99993 A=0.00007


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=0.999350 A=0.000650
gnomAD - Exomes Global Study-wide 251484 G=0.999809 A=0.000191
gnomAD - Exomes European Sub 135412 G=0.999985 A=0.000015
gnomAD - Exomes Asian Sub 49006 G=0.99996 A=0.00004
gnomAD - Exomes American Sub 34592 G=0.99986 A=0.00014
gnomAD - Exomes African Sub 16256 G=0.99760 A=0.00240
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 189944 G=0.999937 A=0.000063
Allele Frequency Aggregator European Sub 163764 G=0.999976 A=0.000024
Allele Frequency Aggregator Other Sub 13530 G=0.99993 A=0.00007
Allele Frequency Aggregator Asian Sub 6294 G=0.9998 A=0.0002
Allele Frequency Aggregator African Sub 4312 G=0.9988 A=0.0012
Allele Frequency Aggregator Latin American 2 Sub 968 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 796 G=0.999 A=0.001
Allele Frequency Aggregator South Asian Sub 280 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 140148 G=0.999258 A=0.000742
gnomAD - Genomes European Sub 75910 G=0.99995 A=0.00005
gnomAD - Genomes African Sub 42008 G=0.99776 A=0.00224
gnomAD - Genomes American Sub 13636 G=0.99963 A=0.00037
gnomAD - Genomes Ashkenazi Jewish Sub 3316 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=0.9997 A=0.0003
gnomAD - Genomes Other Sub 2146 G=1.0000 A=0.0000
ExAC Global Study-wide 121406 G=0.999720 A=0.000280
ExAC Europe Sub 73350 G=0.99999 A=0.00001
ExAC Asian Sub 25164 G=0.99992 A=0.00008
ExAC American Sub 11578 G=0.99957 A=0.00043
ExAC African Sub 10406 G=0.99750 A=0.00250
ExAC Other Sub 908 G=1.000 A=0.000
The PAGE Study Global Study-wide 78698 G=0.99898 A=0.00102
The PAGE Study AfricanAmerican Sub 32514 G=0.99809 A=0.00191
The PAGE Study Mexican Sub 10810 G=0.99991 A=0.00009
The PAGE Study Asian Sub 8318 G=0.9999 A=0.0001
The PAGE Study PuertoRican Sub 7918 G=0.9987 A=0.0013
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=0.9998 A=0.0002
The PAGE Study Dominican Sub 3826 G=0.9990 A=0.0010
The PAGE Study CentralAmerican Sub 2450 G=0.9996 A=0.0004
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
14KJPN JAPANESE Study-wide 28258 G=0.99982 A=0.00018
8.3KJPN JAPANESE Study-wide 16760 G=0.99982 A=0.00018
GO Exome Sequencing Project Global Study-wide 13006 G=0.99923 A=0.00077
GO Exome Sequencing Project European American Sub 8600 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4406 G=0.9977 A=0.0023
1000Genomes_30x Global Study-wide 6404 G=0.9997 A=0.0003
1000Genomes_30x African Sub 1786 G=0.9989 A=0.0011
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9996 A=0.0004
1000Genomes African Sub 1322 G=0.9985 A=0.0015
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9990 A=0.0010
Korean Genome Project KOREAN Study-wide 1832 G=0.9989 A=0.0011
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.31141521G>A
GRCh37.p13 chr 8 NC_000008.10:g.30999037G>A
WRN RefSeqGene (LRG_524) NG_008870.1:g.113260G>A
Gene: WRN, WRN RecQ like helicase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
WRN transcript NM_000553.6:c.3059G>A R [CGT] > H [CAT] Coding Sequence Variant
bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN NP_000544.2:p.Arg1020His R (Arg) > H (His) Missense Variant
WRN transcript variant X1 XM_011544639.4:c.2978G>A R [CGT] > H [CAT] Coding Sequence Variant
bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN isoform X1 XP_011542941.1:p.Arg993His R (Arg) > H (His) Missense Variant
WRN transcript variant X5 XM_011544640.2:c.1460G>A R [CGT] > H [CAT] Coding Sequence Variant
bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN isoform X2 XP_011542942.1:p.Arg487His R (Arg) > H (His) Missense Variant
WRN transcript variant X2 XR_949470.4:n.3299G>A N/A Non Coding Transcript Variant
WRN transcript variant X3 XR_949471.4:n.3299G>A N/A Non Coding Transcript Variant
WRN transcript variant X4 XR_949472.4:n.3299G>A N/A Non Coding Transcript Variant
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.

Allele: A (allele ID: 396219 )
ClinVar Accession Disease Names Clinical Significance
RCV000468223.12 Werner syndrome Conflicting-Interpretations-Of-Pathogenicity
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.31141521= NC_000008.11:g.31141521G>A
GRCh37.p13 chr 8 NC_000008.10:g.30999037= NC_000008.10:g.30999037G>A
WRN RefSeqGene (LRG_524) NG_008870.1:g.113260= NG_008870.1:g.113260G>A
WRN transcript NM_000553.6:c.3059= NM_000553.6:c.3059G>A
WRN transcript NM_000553.5:c.3059= NM_000553.5:c.3059G>A
WRN transcript NM_000553.4:c.3059= NM_000553.4:c.3059G>A
WRN transcript variant X1 XM_011544639.4:c.2978= XM_011544639.4:c.2978G>A
WRN transcript variant X1 XM_011544639.3:c.2978= XM_011544639.3:c.2978G>A
WRN transcript variant X1 XM_011544639.2:c.2978= XM_011544639.2:c.2978G>A
WRN transcript variant X1 XM_011544639.1:c.2978= XM_011544639.1:c.2978G>A
WRN transcript variant X3 XR_949471.4:n.3299= XR_949471.4:n.3299G>A
WRN transcript variant X4 XR_949471.3:n.3360= XR_949471.3:n.3360G>A
WRN transcript variant X3 XR_949471.2:n.3329= XR_949471.2:n.3329G>A
WRN transcript variant X3 XR_949471.1:n.3332= XR_949471.1:n.3332G>A
WRN transcript variant X4 XR_949472.4:n.3299= XR_949472.4:n.3299G>A
WRN transcript variant X5 XR_949472.3:n.3360= XR_949472.3:n.3360G>A
WRN transcript variant X4 XR_949472.2:n.3329= XR_949472.2:n.3329G>A
WRN transcript variant X4 XR_949472.1:n.3332= XR_949472.1:n.3332G>A
WRN transcript variant X2 XR_949470.4:n.3299= XR_949470.4:n.3299G>A
WRN transcript variant X3 XR_949470.3:n.3360= XR_949470.3:n.3360G>A
WRN transcript variant X2 XR_949470.2:n.3329= XR_949470.2:n.3329G>A
WRN transcript variant X2 XR_949470.1:n.3332= XR_949470.1:n.3332G>A
WRN transcript variant X5 XM_011544640.2:c.1460= XM_011544640.2:c.1460G>A
WRN transcript variant X6 XM_011544640.1:c.1460= XM_011544640.1:c.1460G>A
bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN NP_000544.2:p.Arg1020= NP_000544.2:p.Arg1020His
bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN isoform X1 XP_011542941.1:p.Arg993= XP_011542941.1:p.Arg993His
bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN isoform X2 XP_011542942.1:p.Arg487= XP_011542942.1:p.Arg487His
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#.

43 SubSNP, 13 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss223633738 Jul 14, 2010 (132)
2 NHLBI-ESP ss342256593 May 09, 2011 (134)
3 1000GENOMES ss490963344 May 04, 2012 (137)
4 EXOME_CHIP ss491412318 May 04, 2012 (137)
5 ILLUMINA ss780869058 Sep 08, 2015 (146)
6 ILLUMINA ss783554066 Sep 08, 2015 (146)
7 1000GENOMES ss1329257295 Aug 21, 2014 (142)
8 EVA_EXAC ss1689157653 Apr 01, 2015 (144)
9 ILLUMINA ss1752728803 Sep 08, 2015 (146)
10 ILLUMINA ss1917827564 Feb 12, 2016 (147)
11 ILLUMINA ss1946234171 Feb 12, 2016 (147)
12 ILLUMINA ss1959101962 Feb 12, 2016 (147)
13 HUMAN_LONGEVITY ss2302002360 Dec 20, 2016 (150)
14 GNOMAD ss2737093786 Nov 08, 2017 (151)
15 GNOMAD ss2748029862 Nov 08, 2017 (151)
16 GNOMAD ss2865051237 Nov 08, 2017 (151)
17 AFFY ss2985435947 Nov 08, 2017 (151)
18 ILLUMINA ss3022835039 Nov 08, 2017 (151)
19 ILLUMINA ss3630034329 Oct 12, 2018 (152)
20 ILLUMINA ss3635166957 Oct 12, 2018 (152)
21 ILLUMINA ss3640874247 Oct 12, 2018 (152)
22 ILLUMINA ss3644967362 Oct 12, 2018 (152)
23 ILLUMINA ss3653376423 Oct 12, 2018 (152)
24 ILLUMINA ss3654197967 Oct 12, 2018 (152)
25 ILLUMINA ss3726528377 Jul 13, 2019 (153)
26 ILLUMINA ss3744579078 Jul 13, 2019 (153)
27 ILLUMINA ss3745466770 Jul 13, 2019 (153)
28 PAGE_CC ss3771435166 Jul 13, 2019 (153)
29 ILLUMINA ss3772959290 Jul 13, 2019 (153)
30 EVA ss3824361736 Apr 26, 2020 (154)
31 KRGDB ss3917058596 Apr 26, 2020 (154)
32 KOGIC ss3963577904 Apr 26, 2020 (154)
33 EVA ss3986419885 Apr 26, 2021 (155)
34 TOPMED ss4780971033 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5188037089 Apr 26, 2021 (155)
36 1000G_HIGH_COVERAGE ss5276630162 Oct 16, 2022 (156)
37 1000G_HIGH_COVERAGE ss5566698950 Oct 16, 2022 (156)
38 SANFORD_IMAGENETICS ss5645094792 Oct 16, 2022 (156)
39 TOMMO_GENOMICS ss5729765558 Oct 16, 2022 (156)
40 EVA ss5848173044 Oct 16, 2022 (156)
41 EVA ss5888370839 Oct 16, 2022 (156)
42 EVA ss5935923742 Oct 16, 2022 (156)
43 EVA ss5974284578 Oct 16, 2022 (156)
44 1000Genomes NC_000008.10 - 30999037 Oct 12, 2018 (152)
45 1000Genomes_30x NC_000008.11 - 31141521 Oct 16, 2022 (156)
46 ExAC NC_000008.10 - 30999037 Oct 12, 2018 (152)
47 gnomAD - Genomes NC_000008.11 - 31141521 Apr 26, 2021 (155)
48 gnomAD - Exomes NC_000008.10 - 30999037 Jul 13, 2019 (153)
49 GO Exome Sequencing Project NC_000008.10 - 30999037 Oct 12, 2018 (152)
50 KOREAN population from KRGDB NC_000008.10 - 30999037 Apr 26, 2020 (154)
51 Korean Genome Project NC_000008.11 - 31141521 Apr 26, 2020 (154)
52 The PAGE Study NC_000008.11 - 31141521 Jul 13, 2019 (153)
53 8.3KJPN NC_000008.10 - 30999037 Apr 26, 2021 (155)
54 14KJPN NC_000008.11 - 31141521 Oct 16, 2022 (156)
55 TopMed NC_000008.11 - 31141521 Apr 26, 2021 (155)
56 ALFA NC_000008.11 - 31141521 Apr 26, 2021 (155)
57 ClinVar RCV000468223.12 Oct 16, 2022 (156)
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
41363565, 9254639, 6264330, 819581, 24235990, 46006396, ss223633738, ss342256593, ss490963344, ss491412318, ss780869058, ss783554066, ss1329257295, ss1689157653, ss1752728803, ss1917827564, ss1946234171, ss1959101962, ss2737093786, ss2748029862, ss2865051237, ss2985435947, ss3022835039, ss3630034329, ss3635166957, ss3640874247, ss3644967362, ss3653376423, ss3654197967, ss3744579078, ss3745466770, ss3772959290, ss3824361736, ss3917058596, ss3986419885, ss5188037089, ss5645094792, ss5848173044, ss5935923742, ss5974284578 NC_000008.10:30999036:G:A NC_000008.11:31141520:G:A (self)
RCV000468223.12, 54224885, 291638133, 19955905, 656635, 63602662, 618348593, 11271025932, ss2302002360, ss3726528377, ss3771435166, ss3963577904, ss4780971033, ss5276630162, ss5566698950, ss5729765558, ss5888370839 NC_000008.11:31141520:G:A NC_000008.11:31141520: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 rs115298665

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