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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.

rs374029747

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:15774 (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.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.002409 (302/125358, GnomAD)
A=0.08839 (1474/16676, 8.3KJPN)
A=0.00496 (81/16330, ALFA) (+ 5 more)
A=0.0120 (60/5008, 1000G)
A=0.0506 (145/2864, KOREAN)
A=0.0356 (63/1770, Korea1K)
G=0.50 (8/16, SGDP_PRJ)
A=0.50 (8/16, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WASH7P : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.15774G>A
GRCh37.p13 chr 1 NC_000001.10:g.15774G>A
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
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

ALFA Allele Frequency (New)
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 16330 G=0.99504 A=0.00496
European Sub 12078 G=0.99536 A=0.00464
African Sub 2816 G=0.9982 A=0.0018
African Others Sub 108 G=1.000 A=0.000
African American Sub 2708 G=0.9982 A=0.0018
Asian Sub 108 G=0.963 A=0.037
East Asian Sub 84 G=0.95 A=0.05
Other Asian Sub 24 G=1.00 A=0.00
Latin American 1 Sub 146 G=0.993 A=0.007
Latin American 2 Sub 610 G=0.992 A=0.008
South Asian Sub 94 G=0.93 A=0.07
Other Sub 478 G=0.994 A=0.006


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
gnomAD - Genomes Global Study-wide 125358 G=0.997591 A=0.002409
gnomAD - Genomes European Sub 67908 G=0.99766 A=0.00234
gnomAD - Genomes African Sub 39494 G=0.99970 A=0.00030
gnomAD - Genomes American Sub 11050 G=0.99620 A=0.00380
gnomAD - Genomes Ashkenazi Jewish Sub 3132 G=0.9978 A=0.0022
gnomAD - Genomes East Asian Sub 1898 G=0.9610 A=0.0390
gnomAD - Genomes Other Sub 1876 G=0.9957 A=0.0043
8.3KJPN JAPANESE Study-wide 16676 G=0.91161 A=0.08839
Allele Frequency Aggregator Total Global 16330 G=0.99504 A=0.00496
Allele Frequency Aggregator European Sub 12078 G=0.99536 A=0.00464
Allele Frequency Aggregator African Sub 2816 G=0.9982 A=0.0018
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.992 A=0.008
Allele Frequency Aggregator Other Sub 478 G=0.994 A=0.006
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.993 A=0.007
Allele Frequency Aggregator Asian Sub 108 G=0.963 A=0.037
Allele Frequency Aggregator South Asian Sub 94 G=0.93 A=0.07
1000Genomes Global Study-wide 5008 G=0.9880 A=0.0120
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9712 A=0.0288
1000Genomes Europe Sub 1006 G=0.9920 A=0.0080
1000Genomes South Asian Sub 978 G=0.982 A=0.018
1000Genomes American Sub 694 G=0.993 A=0.007
KOREAN population from KRGDB KOREAN Study-wide 2864 G=0.9494 A=0.0506
Korean Genome Project KOREAN Study-wide 1770 G=0.9644 A=0.0356
SGDP_PRJ Global Study-wide 16 G=0.50 A=0.50
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.p13 chr 1 NC_000001.11:g.15774= NC_000001.11:g.15774G>A
GRCh37.p13 chr 1 NC_000001.10:g.15774= NC_000001.10:g.15774G>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#.

10 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSMP ss647514745 Apr 25, 2013 (138)
2 1000GENOMES ss1289335499 Aug 21, 2014 (142)
3 GNOMAD ss2750601662 Nov 08, 2017 (151)
4 SWEGEN ss2986141391 Nov 08, 2017 (151)
5 TOPMED ss3066317156 Nov 08, 2017 (151)
6 KHV_HUMAN_GENOMES ss3798742411 Jul 12, 2019 (153)
7 SGDP_PRJ ss3847983282 Apr 25, 2020 (154)
8 KRGDB ss3892822978 Apr 25, 2020 (154)
9 KOGIC ss3943622145 Apr 25, 2020 (154)
10 TOMMO_GENOMICS ss5142031338 Apr 25, 2021 (155)
11 1000Genomes NC_000001.10 - 15774 Oct 11, 2018 (152)
12 gnomAD - Genomes NC_000001.11 - 15774 Apr 25, 2021 (155)
13 KOREAN population from KRGDB NC_000001.10 - 15774 Apr 25, 2020 (154)
14 Korean Genome Project NC_000001.11 - 15774 Apr 25, 2020 (154)
15 SGDP_PRJ NC_000001.10 - 15774 Apr 25, 2020 (154)
16 8.3KJPN NC_000001.10 - 15774 Apr 25, 2021 (155)
17 ALFA NC_000001.11 - 15774 Apr 25, 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
64, 372, 262, 645, ss647514745, ss1289335499, ss2750601662, ss2986141391, ss3847983282, ss3892822978, ss5142031338 NC_000001.10:15773:G:A NC_000001.11:15773:G:A (self)
1318, 146, 1257249905, ss3066317156, ss3798742411, ss3943622145 NC_000001.11:15773:G:A NC_000001.11:15773: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 rs374029747

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.post596+ae089ad