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dbSNP Short Genetic Variations

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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:15211 (GRCh38.p13) 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.

T>A / T>G
Variation Type
SNV Single Nucleotide Variation
A=0.00026 (19/73844, GnomAD)
G=0.47009 (7874/16750, 8.3KJPN)
G=0.3153 (2959/9386, ALFA) (+ 5 more)
T=0.3910 (1958/5008, 1000G)
G=0.4699 (1373/2922, KOREAN)
T=0.373 (205/550, SGDP_PRJ)
G=0.097 (52/534, MGP)
T=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WASH7P : Intron Variant
0 citations
Genomic View
See rs on genome

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.p13 chr 1 NC_000001.11:g.15211T>A
GRCh38.p13 chr 1 NC_000001.11:g.15211T>G
GRCh37.p13 chr 1 NC_000001.10:g.15211T>A
GRCh37.p13 chr 1 NC_000001.10:g.15211T>G
Gene: WASH7P, WASP family homolog 7, pseudogene (minus strand)
Molecule type Change Amino acid[Codon] SO Term
WASH7P transcript NR_024540.1:n. N/A Intron Variant

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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 9386 T=0.6847 A=0.0000, G=0.3153
European Sub 7042 T=0.5808 A=0.0000, G=0.4192
African Sub 1642 T=1.0000 A=0.0000, G=0.0000
African Others Sub 66 T=1.00 A=0.00, G=0.00
African American Sub 1576 T=1.0000 A=0.0000, G=0.0000
Asian Sub 92 T=1.00 A=0.00, G=0.00
East Asian Sub 76 T=1.00 A=0.00, G=0.00
Other Asian Sub 16 T=1.00 A=0.00, G=0.00
Latin American 1 Sub 54 T=1.00 A=0.00, G=0.00
Latin American 2 Sub 270 T=1.000 A=0.000, G=0.000
South Asian Sub 46 T=1.00 A=0.00, G=0.00
Other Sub 240 T=0.971 A=0.000, G=0.029


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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 73844 T=0.99974 A=0.00026
gnomAD - Genomes European Sub 35578 T=0.99955 A=0.00045
gnomAD - Genomes African Sub 27186 T=0.99996 A=0.00004
gnomAD - Genomes American Sub 6242 T=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 2148 T=1.0000 A=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 1584 T=0.9987 A=0.0013
gnomAD - Genomes Other Sub 1106 T=1.0000 A=0.0000
8.3KJPN JAPANESE Study-wide 16750 T=0.52991 G=0.47009
Allele Frequency Aggregator Total Global 9386 T=0.6847 A=0.0000, G=0.3153
Allele Frequency Aggregator European Sub 7042 T=0.5808 A=0.0000, G=0.4192
Allele Frequency Aggregator African Sub 1642 T=1.0000 A=0.0000, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 270 T=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Other Sub 240 T=0.971 A=0.000, G=0.029
Allele Frequency Aggregator Asian Sub 92 T=1.00 A=0.00, G=0.00
Allele Frequency Aggregator Latin American 1 Sub 54 T=1.00 A=0.00, G=0.00
Allele Frequency Aggregator South Asian Sub 46 T=1.00 A=0.00, G=0.00
1000Genomes Global Study-wide 5008 T=0.3910 G=0.6090
1000Genomes African Sub 1322 T=0.4629 G=0.5371
1000Genomes East Asian Sub 1008 T=0.4960 G=0.5040
1000Genomes Europe Sub 1006 T=0.2684 G=0.7316
1000Genomes South Asian Sub 978 T=0.360 G=0.640
1000Genomes American Sub 694 T=0.323 G=0.677
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.5301 A=0.0000, G=0.4699
SGDP_PRJ Global Study-wide 550 T=0.373 G=0.627
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.903 G=0.097
The Danish reference pan genome Danish Study-wide 40 T=0.42 G=0.57

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 T= A G
GRCh38.p13 chr 1 NC_000001.11:g.15211= NC_000001.11:g.15211T>A NC_000001.11:g.15211T>G
GRCh37.p13 chr 1 NC_000001.10:g.15211= NC_000001.10:g.15211T>A NC_000001.10:g.15211T>G

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#.

23 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss5631593 Feb 20, 2003 (117)
2 CSHL-HAPMAP ss16438541 Feb 28, 2004 (149)
3 SSAHASNP ss35124840 May 24, 2005 (149)
4 BCMHGSC_JDW ss87152769 Mar 25, 2008 (149)
5 ENSEMBL ss138947809 Dec 01, 2009 (149)
6 BL ss252863944 May 09, 2011 (149)
7 GMI ss275679858 May 04, 2012 (149)
8 SSMP ss647514744 Apr 25, 2013 (149)
9 1000GENOMES ss1289335488 Aug 21, 2014 (149)
10 DDI ss1425684526 Apr 01, 2015 (149)
11 EVA_GENOME_DK ss1573850663 Apr 01, 2015 (149)
12 EVA_MGP ss1710883257 Apr 01, 2015 (149)
13 GRF ss2697372891 Nov 08, 2017 (151)
14 GNOMAD ss2750601540 Nov 08, 2017 (151)
15 SWEGEN ss2986141356 Nov 08, 2017 (151)
16 TOPMED ss3066316988 Nov 08, 2017 (151)
17 TOPMED ss3066316989 Nov 08, 2017 (151)
18 OMUKHERJEE_ADBS ss3646218002 Oct 11, 2018 (152)
19 URBANLAB ss3646580251 Oct 11, 2018 (152)
20 KHV_HUMAN_GENOMES ss3798742407 Jul 12, 2019 (153)
21 SGDP_PRJ ss3847983249 Apr 25, 2020 (154)
22 KRGDB ss3892822944 Apr 25, 2020 (154)
23 TOMMO_GENOMICS ss5142031276 Apr 25, 2021 (155)
24 1000Genomes NC_000001.10 - 15211 Oct 11, 2018 (152)
25 The Danish reference pan genome NC_000001.10 - 15211 Apr 25, 2020 (154)
26 gnomAD - Genomes NC_000001.11 - 15211 Apr 25, 2021 (155)
27 KOREAN population from KRGDB NC_000001.10 - 15211 Apr 25, 2020 (154)
28 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 15211 Apr 25, 2020 (154)
29 SGDP_PRJ NC_000001.10 - 15211 Apr 25, 2020 (154)
30 8.3KJPN NC_000001.10 - 15211 Apr 25, 2021 (155)
31 ALFA NC_000001.11 - 15211 Apr 25, 2021 (155)

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)
rs4013678 Aug 27, 2003 (117)
rs4030219 Mar 31, 2003 (113)
rs11586607 Sep 28, 2016 (149)
rs78601809 Jul 01, 2015 (144)
rs144718396 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
338, ss2750601540, ss3892822944 NC_000001.10:15210:T:A NC_000001.11:15210:T:A (self)
1214, 2099781905, ss3066316988 NC_000001.11:15210:T:A NC_000001.11:15210:T:A (self)
ss35124840 NC_000001.8:5073:T:G NC_000001.11:15210:T:G (self)
ss87152769, ss252863944, ss275679858 NC_000001.9:5073:T:G NC_000001.11:15210:T:G (self)
54, 1357897, 338, 9, 229, 583, ss647514744, ss1289335488, ss1425684526, ss1573850663, ss1710883257, ss2697372891, ss2750601540, ss2986141356, ss3646218002, ss3847983249, ss3892822944, ss5142031276 NC_000001.10:15210:T:G NC_000001.11:15210:T:G (self)
2099781905, ss3066316989, ss3646580251, ss3798742407 NC_000001.11:15210:T:G NC_000001.11:15210:T:G (self)
ss16438541 NT_077402.1:5073:T:G NC_000001.11:15210:T:G (self)
ss5631593, ss138947809 NT_077402.2:5210:T:G NC_000001.11:15210:T:G (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs3982632


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.post596+ae089ad