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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs2263638

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr10:92409040 (GRCh38.p7) 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=0.34755 (43641/125568, TOPMED)
A=0.3512 (10829/30832, GnomAD)
A=0.318 (1593/5008, 1000G) (+ 2 more)
A=0.355 (1370/3854, ALSPAC)
A=0.338 (1255/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
1 citation
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.p7 chr 10 NC_000010.11:g.92409040G>A
GRCh37.p13 chr 10 NC_000010.10:g.94168797G>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
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.65245 A=0.34755
The Genome Aggregation Database Global Study-wide 30832 G=0.6488 A=0.3512
The Genome Aggregation Database European Sub 18434 G=0.6503 A=0.3497
The Genome Aggregation Database African Sub 8692 G=0.619 A=0.381
The Genome Aggregation Database East Asian Sub 1596 G=0.793 A=0.207
The Genome Aggregation Database Other Sub 976 G=0.65 A=0.35
The Genome Aggregation Database American Sub 838 G=0.62 A=0.38
The Genome Aggregation Database Ashkenazi Jewish Sub 296 G=0.74 A=0.26
1000Genomes Global Study-wide 5008 G=0.682 A=0.318
1000Genomes African Sub 1322 G=0.611 A=0.389
1000Genomes East Asian Sub 1008 G=0.804 A=0.196
1000Genomes Europe Sub 1006 G=0.636 A=0.364
1000Genomes South Asian Sub 978 G=0.73 A=0.27
1000Genomes American Sub 694 G=0.64 A=0.36
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.645 A=0.355
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.662 A=0.338
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.p7 chr 10 NC_000010.11:g.92409040G= NC_000010.11:g.92409040G>A
GRCh37.p13 chr 10 NC_000010.10:g.94168797G= NC_000010.10:g.94168797G>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#.

5 Frequency, 71 SubSNP submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3390306 Sep 28, 2001 (100)
2 SC_JCM ss3491475 Sep 28, 2001 (100)
3 SC_JCM ss3917693 Sep 28, 2001 (100)
4 SC_JCM ss4217797 Nov 05, 2001 (117)
5 WI_SSAHASNP ss12104937 Jul 11, 2003 (116)
6 SC_SNP ss12977969 Dec 05, 2003 (119)
7 CSHL-HAPMAP ss16503906 Feb 27, 2004 (120)
8 ABI ss39777280 Mar 13, 2006 (126)
9 HGSV ss83293884 Dec 14, 2007 (130)
10 BGI ss102901589 Dec 01, 2009 (131)
11 1000GENOMES ss109655802 Jan 24, 2009 (130)
12 1000GENOMES ss113652263 Jan 25, 2009 (130)
13 ILLUMINA ss160523766 Dec 01, 2009 (131)
14 ENSEMBL ss161372194 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss170745577 Jul 04, 2010 (132)
16 BUSHMAN ss201866088 Jul 04, 2010 (132)
17 1000GENOMES ss224875922 Jul 14, 2010 (132)
18 1000GENOMES ss235286389 Jul 15, 2010 (132)
19 1000GENOMES ss241971123 Jul 15, 2010 (132)
20 BL ss254520283 May 09, 2011 (134)
21 GMI ss280726349 May 04, 2012 (137)
22 GMI ss286241032 Apr 25, 2013 (138)
23 PJP ss290896294 May 09, 2011 (134)
24 BROAD_NHGRI_T2D ss411631022 Jul 19, 2016 (147)
25 ILLUMINA ss480491585 May 04, 2012 (137)
26 ILLUMINA ss480505986 May 04, 2012 (137)
27 ILLUMINA ss481309390 Sep 08, 2015 (146)
28 ILLUMINA ss485043343 May 04, 2012 (137)
29 ILLUMINA ss537064393 Sep 08, 2015 (146)
30 TISHKOFF ss562133087 Apr 25, 2013 (138)
31 SSMP ss657167204 Apr 25, 2013 (138)
32 ILLUMINA ss778488347 Aug 21, 2014 (142)
33 ILLUMINA ss782967892 Aug 21, 2014 (142)
34 ILLUMINA ss783929653 Aug 21, 2014 (142)
35 ILLUMINA ss832224178 Apr 01, 2015 (144)
36 ILLUMINA ss833944313 Aug 21, 2014 (142)
37 EVA-GONL ss987786805 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1077203239 Aug 21, 2014 (142)
39 1000GENOMES ss1338559604 Aug 21, 2014 (142)
40 DDI ss1426406479 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1575287680 Apr 01, 2015 (144)
42 EVA_DECODE ss1597460078 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1625161057 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1668155090 Apr 01, 2015 (144)
45 ILLUMINA ss1751987150 Sep 08, 2015 (146)
46 HAMMER_LAB ss1806514016 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1931153333 Feb 12, 2016 (147)
48 GENOMED ss1967196390 Jul 19, 2016 (147)
49 JJLAB ss2026305065 Sep 14, 2016 (149)
50 USC_VALOUEV ss2154581039 Nov 08, 2017 (151)
51 HUMAN_LONGEVITY ss2177015836 Dec 20, 2016 (150)
52 TOPMED ss2340125583 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2627621732 Nov 08, 2017 (151)
54 ILLUMINA ss2632746219 Nov 08, 2017 (151)
55 GRF ss2698833338 Nov 08, 2017 (151)
56 GNOMAD ss2891946180 Nov 08, 2017 (151)
57 AFFY ss2985568040 Nov 08, 2017 (151)
58 SWEGEN ss3006938966 Nov 08, 2017 (151)
59 ILLUMINA ss3021263333 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3026942515 Nov 08, 2017 (151)
61 TOPMED ss3127097704 Nov 08, 2017 (151)
62 CSHL ss3349253975 Nov 08, 2017 (151)
63 ILLUMINA ss3626506166 Jul 20, 2018 (151)
64 ILLUMINA ss3630769642 Jul 20, 2018 (151)
65 ILLUMINA ss3632959571 Jul 20, 2018 (151)
66 ILLUMINA ss3633657189 Jul 20, 2018 (151)
67 ILLUMINA ss3634416726 Jul 20, 2018 (151)
68 ILLUMINA ss3635349479 Jul 20, 2018 (151)
69 ILLUMINA ss3636100521 Jul 20, 2018 (151)
70 ILLUMINA ss3637100183 Jul 20, 2018 (151)
71 ILLUMINA ss3640124067 Jul 20, 2018 (151)
72 1000Genomes NC_000010.10 - 94168797 Jul 20, 2018 (151)
73 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 94168797 Jul 20, 2018 (151)
74 The Genome Aggregation Database NC_000010.10 - 94168797 Jul 20, 2018 (151)
75 Trans-Omics for Precision Medicine NC_000010.11 - 92409040 Jul 20, 2018 (151)
76 UK 10K study - Twins NC_000010.10 - 94168797 Jul 20, 2018 (151)
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)
rs2995790 Aug 27, 2003 (117)
rs58127289 May 24, 2008 (130)
rs386562868 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss83293884 NC_000010.8:94158776:G= NC_000010.11:92409039:G= (self)
ss109655802, ss113652263, ss170745577, ss201866088, ss254520283, ss280726349, ss286241032, ss290896294, ss480491585, ss1597460078 NC_000010.9:94158776:G= NC_000010.11:92409039:G= (self)
50988493, 28306736, 25647701, 28306736, ss224875922, ss235286389, ss241971123, ss480505986, ss481309390, ss485043343, ss537064393, ss562133087, ss657167204, ss778488347, ss782967892, ss783929653, ss832224178, ss833944313, ss987786805, ss1077203239, ss1338559604, ss1426406479, ss1575287680, ss1625161057, ss1668155090, ss1751987150, ss1806514016, ss1931153333, ss1967196390, ss2026305065, ss2154581039, ss2340125583, ss2627621732, ss2632746219, ss2698833338, ss2891946180, ss2985568040, ss3006938966, ss3021263333, ss3349253975, ss3626506166, ss3630769642, ss3632959571, ss3633657189, ss3634416726, ss3635349479, ss3636100521, ss3637100183, ss3640124067 NC_000010.10:94168796:G= NC_000010.11:92409039:G= (self)
48793753, ss2177015836, ss3026942515, ss3127097704 NC_000010.11:92409039:G= NC_000010.11:92409039:G= (self)
ss12104937, ss12977969 NT_030059.10:12607344:G= NC_000010.11:92409039:G= (self)
ss16503906 NT_030059.11:12917312:G= NC_000010.11:92409039:G= (self)
ss3390306, ss3491475, ss3917693, ss4217797, ss39777280, ss102901589, ss160523766, ss161372194, ss411631022 NT_030059.13:44973260:G= NC_000010.11:92409039:G= (self)
ss83293884 NC_000010.8:94158776:G>A NC_000010.11:92409039:G>A (self)
ss109655802, ss113652263, ss170745577, ss201866088, ss254520283, ss280726349, ss286241032, ss290896294, ss480491585, ss1597460078 NC_000010.9:94158776:G>A NC_000010.11:92409039:G>A (self)
50988493, 28306736, 25647701, 28306736, ss224875922, ss235286389, ss241971123, ss480505986, ss481309390, ss485043343, ss537064393, ss562133087, ss657167204, ss778488347, ss782967892, ss783929653, ss832224178, ss833944313, ss987786805, ss1077203239, ss1338559604, ss1426406479, ss1575287680, ss1625161057, ss1668155090, ss1751987150, ss1806514016, ss1931153333, ss1967196390, ss2026305065, ss2154581039, ss2340125583, ss2627621732, ss2632746219, ss2698833338, ss2891946180, ss2985568040, ss3006938966, ss3021263333, ss3349253975, ss3626506166, ss3630769642, ss3632959571, ss3633657189, ss3634416726, ss3635349479, ss3636100521, ss3637100183, ss3640124067 NC_000010.10:94168796:G>A NC_000010.11:92409039:G>A (self)
48793753, ss2177015836, ss3026942515, ss3127097704 NC_000010.11:92409039:G>A NC_000010.11:92409039:G>A (self)
ss12104937, ss12977969 NT_030059.10:12607344:G>A NC_000010.11:92409039:G>A (self)
ss16503906 NT_030059.11:12917312:G>A NC_000010.11:92409039:G>A (self)
ss3390306, ss3491475, ss3917693, ss4217797, ss39777280, ss102901589, ss160523766, ss161372194, ss411631022 NT_030059.13:44973260:G>A NC_000010.11:92409039: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.

1 citation for rs2263638
PMID Title Author Year Journal
22837378 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. Wilk JB et al. 2012 American journal of respiratory and critical care medicine

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: 0.1.4.post833+d3ba21e