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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.

rs71260068

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17538 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.21718 (3640/16760, 8.3KJPN)
A=0.10491 (1414/13478, ALFA)
A=0.2053 (600/2922, KOREAN) (+ 7 more)
A=0.0049 (9/1832, Korea1K)
A=0.043 (23/534, MGP)
C=0.500 (125/250, SGDP_PRJ)
A=0.500 (125/250, SGDP_PRJ)
A=0.329 (71/216, Qatari)
C=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MIR6859-1 : 2KB Upstream Variant
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.17538C>A
GRCh38.p13 chr 1 NC_000001.11:g.17538C>T
GRCh37.p13 chr 1 NC_000001.10:g.17538C>A
GRCh37.p13 chr 1 NC_000001.10:g.17538C>T
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
Gene: MIR6859-1, microRNA 6859-1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR6859-1 transcript NR_106918.1:n. N/A Upstream 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.

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 13478 C=0.89509 A=0.10491, T=0.00000
European Sub 9682 C=0.8543 A=0.1457, T=0.0000
African Sub 2738 C=1.0000 A=0.0000, T=0.0000
African Others Sub 108 C=1.000 A=0.000, T=0.000
African American Sub 2630 C=1.0000 A=0.0000, T=0.0000
Asian Sub 84 C=1.00 A=0.00, T=0.00
East Asian Sub 66 C=1.00 A=0.00, T=0.00
Other Asian Sub 18 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 92 C=1.00 A=0.00, T=0.00
Latin American 2 Sub 434 C=1.000 A=0.000, T=0.000
South Asian Sub 72 C=1.00 A=0.00, T=0.00
Other Sub 376 C=0.992 A=0.008, 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
8.3KJPN JAPANESE Study-wide 16760 C=0.78282 A=0.21718
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.7947 A=0.2053
Korean Genome Project KOREAN Study-wide 1832 C=0.9951 A=0.0049
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.957 A=0.043
SGDP_PRJ Global Study-wide 250 C=0.500 A=0.500
Qatari Global Study-wide 216 C=0.662 A=0.329, T=0.009
Siberian Global Study-wide 2 C=0.5 A=0.5
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 C= A T
GRCh38.p13 chr 1 NC_000001.11:g.17538= NC_000001.11:g.17538C>A NC_000001.11:g.17538C>T
GRCh37.p13 chr 1 NC_000001.10:g.17538= NC_000001.10:g.17538C>A NC_000001.10:g.17538C>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#.

23 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95864495 Feb 13, 2009 (130)
2 CLINSEQ_SNP ss491581588 May 04, 2012 (147)
3 SSMP ss647514758 Apr 25, 2013 (147)
4 DDI ss1425684529 Apr 01, 2015 (147)
5 EVA_MGP ss1710883266 Apr 01, 2015 (147)
6 WEILL_CORNELL_DGM ss1917958141 Feb 12, 2016 (147)
7 ILLUMINA ss1958229886 Feb 12, 2016 (147)
8 ILLUMINA ss2137536897 Nov 08, 2017 (151)
9 ILLUMINA ss2137543905 Oct 11, 2018 (152)
10 USC_VALOUEV ss2147483693 Dec 20, 2016 (150)
11 GRF ss2697372913 Nov 08, 2017 (151)
12 GNOMAD ss2750602019 Nov 08, 2017 (151)
13 SWEGEN ss2986141496 Nov 08, 2017 (151)
14 TOPMED ss3066317617 Nov 08, 2017 (151)
15 TOPMED ss3066317618 Nov 08, 2017 (151)
16 CSHL ss3343271480 Nov 08, 2017 (151)
17 OMUKHERJEE_ADBS ss3646218060 Oct 11, 2018 (152)
18 SGDP_PRJ ss3847983373 Apr 25, 2020 (154)
19 KRGDB ss3892823089 Apr 25, 2020 (154)
20 KOGIC ss3943622228 Apr 25, 2020 (154)
21 FSA-LAB ss3983910142 Apr 25, 2021 (155)
22 EVA ss5141868163 Apr 25, 2021 (155)
23 TOMMO_GENOMICS ss5142031552 Apr 25, 2021 (155)
24 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 1717 (NC_000001.11:17537:C:A 56/137656)
Row 1718 (NC_000001.11:17537:C:T 2/138464)

- Apr 25, 2021 (155)
25 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 1717 (NC_000001.11:17537:C:A 56/137656)
Row 1718 (NC_000001.11:17537:C:T 2/138464)

- Apr 25, 2021 (155)
26 KOREAN population from KRGDB NC_000001.10 - 17538 Apr 25, 2020 (154)
27 Korean Genome Project NC_000001.11 - 17538 Apr 25, 2020 (154)
28 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 17538 Apr 25, 2020 (154)
29 Qatari NC_000001.10 - 17538 Apr 25, 2020 (154)
30 SGDP_PRJ NC_000001.10 - 17538 Apr 25, 2020 (154)
31 Siberian NC_000001.10 - 17538 Apr 25, 2020 (154)
32 8.3KJPN NC_000001.10 - 17538 Apr 25, 2021 (155)
33 ALFA NC_000001.11 - 17538 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).

Associated ID History Updated (Build)
rs200046632 Jul 19, 2016 (147)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491581588 NC_000001.9:7400:C:A NC_000001.11:17537:C:A (self)
483, 18, 71, 353, 47, 859, ss647514758, ss1425684529, ss1710883266, ss1917958141, ss1958229886, ss2137536897, ss2137543905, ss2147483693, ss2697372913, ss2750602019, ss2986141496, ss3343271480, ss3646218060, ss3847983373, ss3892823089, ss3983910142, ss5142031552 NC_000001.10:17537:C:A NC_000001.11:17537:C:A (self)
229, 8615179905, ss3066317617, ss3943622228, ss5141868163 NC_000001.11:17537:C:A NC_000001.11:17537:C:A (self)
ss95864495 NT_077402.2:7537:C:A NC_000001.11:17537:C:A (self)
71, ss1917958141, ss2750602019 NC_000001.10:17537:C:T NC_000001.11:17537:C:T (self)
8615179905, ss3066317618 NC_000001.11:17537:C:T NC_000001.11:17537:C: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 rs71260068

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