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dbSNP Short Genetic Variations

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.

rs788250

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr10:42857778 (GRCh38.p12) 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=0.08945 (11232/125568, TOPMED)
A=0.0937 (2898/30942, GnomAD)
A=0.056 (281/5008, 1000G) (+ 2 more)
A=0.092 (356/3854, ALSPAC)
A=0.098 (364/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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.p12 chr 10 NC_000010.11:g.42857778G>A
GRCh37.p13 chr 10 NC_000010.10:g.43353226G>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

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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.91055 A=0.08945
gnomAD - Genomes Global Study-wide 30942 G=0.9063 A=0.0937
gnomAD - Genomes European Sub 18478 G=0.9054 A=0.0946
gnomAD - Genomes African Sub 8720 G=0.887 A=0.113
gnomAD - Genomes East Asian Sub 1622 G=0.999 A=0.001
gnomAD - Genomes Other Sub 982 G=0.92 A=0.08
gnomAD - Genomes American Sub 838 G=0.95 A=0.05
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=0.87 A=0.13
1000Genomes Global Study-wide 5008 G=0.944 A=0.056
1000Genomes African Sub 1322 G=0.915 A=0.085
1000Genomes East Asian Sub 1008 G=0.998 A=0.002
1000Genomes Europe Sub 1006 G=0.897 A=0.103
1000Genomes South Asian Sub 978 G=0.97 A=0.03
1000Genomes American Sub 694 G=0.95 A=0.05
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.908 A=0.092
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.902 A=0.098
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 Note
GRCh38.p12 chr 10 NC_000010.11:g.42857778G= NC_000010.11:g.42857778G>A
GRCh37.p13 chr 10 NC_000010.10:g.43353226G= NC_000010.10:g.43353226G>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#.

22 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss952791 Oct 05, 2000 (86)
2 KWOK ss1915515 Oct 18, 2000 (87)
3 SC_JCM ss2636321 Nov 09, 2000 (92)
4 SC_SNP ss12985565 Dec 05, 2003 (119)
5 BUSHMAN ss201435399 Jul 04, 2010 (132)
6 1000GENOMES ss336092711 May 09, 2011 (134)
7 SSMP ss656620015 Apr 25, 2013 (138)
8 EVA-GONL ss987420573 Aug 21, 2014 (142)
9 JMKIDD_LAB ss1076935439 Aug 21, 2014 (142)
10 1000GENOMES ss1337179744 Aug 21, 2014 (142)
11 EVA_GENOME_DK ss1575069001 Apr 01, 2015 (144)
12 EVA_DECODE ss1597085542 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1624442721 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1667436754 Apr 01, 2015 (144)
15 WEILL_CORNELL_DGM ss1930770081 Feb 12, 2016 (147)
16 JJLAB ss2026108990 Sep 14, 2016 (149)
17 USC_VALOUEV ss2154381521 Dec 20, 2016 (150)
18 TOPMED ss2337232210 Dec 20, 2016 (150)
19 GNOMAD ss2888016135 Nov 08, 2017 (151)
20 SWEGEN ss3006357406 Nov 08, 2017 (151)
21 TOPMED ss3118001773 Nov 08, 2017 (151)
22 CSHL ss3349084799 Nov 08, 2017 (151)
23 1000Genomes NC_000010.10 - 43353226 Oct 12, 2018 (152)
24 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 43353226 Oct 12, 2018 (152)
25 gnomAD - Genomes NC_000010.10 - 43353226 Oct 12, 2018 (152)
26 TopMed NC_000010.11 - 42857778 Oct 12, 2018 (152)
27 UK 10K study - Twins NC_000010.10 - 43353226 Oct 12, 2018 (152)
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)
rs1775080 Jan 18, 2001 (92)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss201435399, ss1597085542 NC_000010.9:42673231:G:A NC_000010.11:42857777:G:A (self)
49558088, 27517803, 21717656, 27517803, ss336092711, ss656620015, ss987420573, ss1076935439, ss1337179744, ss1575069001, ss1624442721, ss1667436754, ss1930770081, ss2026108990, ss2154381521, ss2337232210, ss2888016135, ss3006357406, ss3349084799 NC_000010.10:43353225:G:A NC_000010.11:42857777:G:A (self)
41282040, ss3118001773 NC_000010.11:42857777:G:A NC_000010.11:42857777:G:A (self)
ss12985565 NT_033985.5:475539:G:A NC_000010.11:42857777:G:A (self)
ss952791, ss1915515, ss2636321 NT_033985.7:998290:G:A NC_000010.11:42857777: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 rs788250

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.post104+4a6ee9c