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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.

rs7837791

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr8:59266527 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.45203 (56761/125568, TOPMED)
G=0.4721 (14325/30346, GnomAD)
G=0.496 (2483/5008, 1000G) (+ 2 more)
T=0.483 (1863/3854, ALSPAC)
T=0.484 (1796/3708, 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 8 NC_000008.11:g.59266527G>A
GRCh38.p7 chr 8 NC_000008.11:g.59266527G>T
GRCh37.p13 chr 8 NC_000008.10:g.60179086G>A
GRCh37.p13 chr 8 NC_000008.10:g.60179086G>T
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=0.45203 T=0.54797
The Genome Aggregation Database Global Study-wide 30346 G=0.4721 T=0.5279, A=0.0000
The Genome Aggregation Database European Sub 18024 G=0.5266 T=0.4734, A=0.0000
The Genome Aggregation Database African Sub 8638 G=0.360 T=0.640, A=0.000
The Genome Aggregation Database East Asian Sub 1606 G=0.508 T=0.492, A=0.000
The Genome Aggregation Database Other Sub 960 G=0.52 T=0.48, A=0.00
The Genome Aggregation Database American Sub 816 G=0.32 T=0.68, A=0.00
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=0.49 T=0.51, A=0.00
1000Genomes Global Study-wide 5008 G=0.496 T=0.504
1000Genomes African Sub 1322 G=0.352 T=0.648
1000Genomes East Asian Sub 1008 G=0.543 T=0.457
1000Genomes Europe Sub 1006 G=0.516 T=0.484
1000Genomes South Asian Sub 978 G=0.77 T=0.23
1000Genomes American Sub 694 G=0.29 T=0.71
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.517 T=0.483
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.516 T=0.484
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 T Note
GRCh38.p7 chr 8 NC_000008.11:g.59...

NC_000008.11:g.59266527G=

NC_000008.11:g.59...

NC_000008.11:g.59266527G>A

NC_000008.11:g.59...

NC_000008.11:g.59266527G>T

GRCh37.p13 chr 8 NC_000008.10:g.60...

NC_000008.10:g.60179086G=

NC_000008.10:g.60...

NC_000008.10:g.60179086G>A

NC_000008.10:g.60...

NC_000008.10:g.60179086G>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#.

5 Frequency, 95 SubSNP submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11955832 Jul 11, 2003 (116)
2 WI_SSAHASNP ss14326431 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss19738215 Feb 27, 2004 (120)
4 PERLEGEN ss23911298 Sep 20, 2004 (123)
5 ABI ss44863071 Mar 15, 2006 (126)
6 ILLUMINA ss66692637 Nov 30, 2006 (127)
7 ILLUMINA ss67838222 Nov 30, 2006 (127)
8 ILLUMINA ss67995805 Nov 30, 2006 (127)
9 ILLUMINA ss70953631 May 25, 2008 (130)
10 ILLUMINA ss71560362 May 17, 2007 (127)
11 ILLUMINA ss75563546 Dec 06, 2007 (129)
12 ILLUMINA ss79272165 Dec 15, 2007 (130)
13 KRIBB_YJKIM ss84736720 Dec 15, 2007 (130)
14 HGSV ss86051433 Dec 15, 2007 (130)
15 BGI ss105620770 Feb 05, 2009 (130)
16 1000GENOMES ss108058988 Jan 22, 2009 (130)
17 1000GENOMES ss113084156 Jan 25, 2009 (130)
18 ILLUMINA ss122847222 Dec 01, 2009 (131)
19 ILLUMINA ss154451268 Dec 01, 2009 (131)
20 GMI ss156419631 Dec 01, 2009 (131)
21 ILLUMINA ss159625989 Dec 01, 2009 (131)
22 ILLUMINA ss160920561 Dec 01, 2009 (131)
23 ENSEMBL ss161654402 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss164767856 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss166680392 Jul 04, 2010 (132)
26 ILLUMINA ss172357150 Jul 04, 2010 (132)
27 ILLUMINA ss174577037 Jul 04, 2010 (132)
28 BUSHMAN ss199216540 Jul 04, 2010 (132)
29 1000GENOMES ss223728297 Jul 14, 2010 (132)
30 1000GENOMES ss234454124 Jul 15, 2010 (132)
31 1000GENOMES ss241307469 Jul 15, 2010 (132)
32 BL ss254360566 May 09, 2011 (134)
33 GMI ss279828929 May 04, 2012 (137)
34 PJP ss294089951 May 09, 2011 (134)
35 ILLUMINA ss481692078 May 04, 2012 (137)
36 ILLUMINA ss481723201 May 04, 2012 (137)
37 ILLUMINA ss482690413 Sep 08, 2015 (146)
38 ILLUMINA ss485640746 May 04, 2012 (137)
39 ILLUMINA ss537520855 Sep 08, 2015 (146)
40 TISHKOFF ss560776728 Apr 25, 2013 (138)
41 SSMP ss655212309 Apr 25, 2013 (138)
42 ILLUMINA ss778616920 Sep 08, 2015 (146)
43 ILLUMINA ss783265962 Sep 08, 2015 (146)
44 ILLUMINA ss784219294 Sep 08, 2015 (146)
45 ILLUMINA ss825602683 Apr 01, 2015 (144)
46 ILLUMINA ss832526934 Sep 08, 2015 (146)
47 ILLUMINA ss834074379 Sep 08, 2015 (146)
48 EVA-GONL ss985562516 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1075553803 Aug 21, 2014 (142)
50 1000GENOMES ss1330036924 Aug 21, 2014 (142)
51 HAMMER_LAB ss1397526729 Sep 08, 2015 (146)
52 DDI ss1431527086 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1582701112 Apr 01, 2015 (144)
54 EVA_DECODE ss1595158552 Apr 01, 2015 (144)
55 EVA_UK10K_ALSPAC ss1620732922 Apr 01, 2015 (144)
56 EVA_UK10K_TWINSUK ss1663726955 Apr 01, 2015 (144)
57 EVA_SVP ss1713039205 Apr 01, 2015 (144)
58 ILLUMINA ss1752737188 Sep 08, 2015 (146)
59 HAMMER_LAB ss1805554368 Sep 08, 2015 (146)
60 WEILL_CORNELL_DGM ss1928849927 Feb 12, 2016 (147)
61 ILLUMINA ss1946237608 Feb 12, 2016 (147)
62 ILLUMINA ss1959112903 Feb 12, 2016 (147)
63 GENOMED ss1970989301 Jul 19, 2016 (147)
64 JJLAB ss2025126460 Sep 14, 2016 (149)
65 USC_VALOUEV ss2153352444 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2303471565 Dec 20, 2016 (150)
67 TOPMED ss2473314529 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2627043271 Nov 08, 2017 (151)
69 ILLUMINA ss2634751382 Nov 08, 2017 (151)
70 GRF ss2709122287 Nov 08, 2017 (151)
71 ILLUMINA ss2711138525 Nov 08, 2017 (151)
72 GNOMAD ss2867292547 Nov 08, 2017 (151)
73 AFFY ss2986083085 Nov 08, 2017 (151)
74 SWEGEN ss3003254018 Nov 08, 2017 (151)
75 ILLUMINA ss3022848106 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3026349955 Nov 08, 2017 (151)
77 CSHL ss3348201188 Nov 08, 2017 (151)
78 TOPMED ss3563372609 Nov 08, 2017 (151)
79 ILLUMINA ss3625952444 Jul 20, 2018 (151)
80 ILLUMINA ss3630068153 Jul 20, 2018 (151)
81 ILLUMINA ss3632650315 Jul 20, 2018 (151)
82 ILLUMINA ss3633501743 Jul 20, 2018 (151)
83 ILLUMINA ss3634228592 Jul 20, 2018 (151)
84 ILLUMINA ss3635173030 Jul 20, 2018 (151)
85 ILLUMINA ss3635907362 Jul 20, 2018 (151)
86 ILLUMINA ss3636911353 Jul 20, 2018 (151)
87 ILLUMINA ss3637660551 Jul 20, 2018 (151)
88 ILLUMINA ss3638762234 Jul 20, 2018 (151)
89 ILLUMINA ss3639383459 Jul 20, 2018 (151)
90 ILLUMINA ss3639720998 Jul 20, 2018 (151)
91 ILLUMINA ss3640880320 Jul 20, 2018 (151)
92 ILLUMINA ss3641227999 Jul 20, 2018 (151)
93 ILLUMINA ss3641525670 Jul 20, 2018 (151)
94 ILLUMINA ss3643692952 Jul 20, 2018 (151)
95 ILLUMINA ss3644970827 Jul 20, 2018 (151)
96 1000Genomes NC_000008.10 - 60179086 Jul 20, 2018 (151)
97 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 60179086 Jul 20, 2018 (151)
98 The Genome Aggregation Database NC_000008.10 - 60179086 Jul 20, 2018 (151)
99 Trans-Omics for Precision Medicine NC_000008.11 - 59266527 Jul 20, 2018 (151)
100 UK 10K study - Twins NC_000008.10 - 60179086 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)
rs59933032 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss86051433, ss108058988, ss113084156, ss164767856, ss166680392, ss199216540, ss254360566, ss279828929, ss294089951, ss481692078, ss825602683, ss1397526729, ss1595158552, ss1713039205, ss3639383459, ss3639720998, ss3643692952 NC_000008.9:60341639:G= NC_000008.11:59266526:G= (self)
42167298, 23450279, 207920301, 23450279, ss223728297, ss234454124, ss241307469, ss481723201, ss482690413, ss485640746, ss537520855, ss560776728, ss655212309, ss778616920, ss783265962, ss784219294, ss832526934, ss834074379, ss985562516, ss1075553803, ss1330036924, ss1431527086, ss1582701112, ss1620732922, ss1663726955, ss1752737188, ss1805554368, ss1928849927, ss1946237608, ss1959112903, ss1970989301, ss2025126460, ss2153352444, ss2473314529, ss2627043271, ss2634751382, ss2709122287, ss2711138525, ss2867292547, ss2986083085, ss3003254018, ss3022848106, ss3348201188, ss3625952444, ss3630068153, ss3632650315, ss3633501743, ss3634228592, ss3635173030, ss3635907362, ss3636911353, ss3637660551, ss3638762234, ss3640880320, ss3641227999, ss3641525670, ss3644970827 NC_000008.10:60179085:G= NC_000008.11:59266526:G= (self)
390603957, ss2303471565, ss3026349955, ss3563372609 NC_000008.11:59266526:G= NC_000008.11:59266526:G= (self)
ss11955832 NT_008183.16:12021634:G= NC_000008.11:59266526:G= (self)
ss14326431, ss19738215 NT_008183.17:12021634:G= NC_000008.11:59266526:G= (self)
ss23911298, ss44863071, ss66692637, ss67838222, ss67995805, ss70953631, ss71560362, ss75563546, ss79272165, ss84736720, ss105620770, ss122847222, ss154451268, ss156419631, ss159625989, ss160920561, ss161654402, ss172357150, ss174577037 NT_008183.19:12043486:G= NC_000008.11:59266526:G= (self)
207920301, ss2867292547 NC_000008.10:60179085:G>A NC_000008.11:59266526:G>A (self)
ss86051433, ss108058988, ss113084156, ss164767856, ss166680392, ss199216540, ss254360566, ss279828929, ss294089951, ss481692078, ss825602683, ss1397526729, ss1595158552, ss1713039205, ss3639383459, ss3639720998, ss3643692952 NC_000008.9:60341639:G>T NC_000008.11:59266526:G>T (self)
42167298, 23450279, 207920301, 23450279, ss223728297, ss234454124, ss241307469, ss481723201, ss482690413, ss485640746, ss537520855, ss560776728, ss655212309, ss778616920, ss783265962, ss784219294, ss832526934, ss834074379, ss985562516, ss1075553803, ss1330036924, ss1431527086, ss1582701112, ss1620732922, ss1663726955, ss1752737188, ss1805554368, ss1928849927, ss1946237608, ss1959112903, ss1970989301, ss2025126460, ss2153352444, ss2473314529, ss2627043271, ss2634751382, ss2709122287, ss2711138525, ss2867292547, ss2986083085, ss3003254018, ss3022848106, ss3348201188, ss3625952444, ss3630068153, ss3632650315, ss3633501743, ss3634228592, ss3635173030, ss3635907362, ss3636911353, ss3637660551, ss3638762234, ss3640880320, ss3641227999, ss3641525670, ss3644970827 NC_000008.10:60179085:G>T NC_000008.11:59266526:G>T (self)
390603957, ss2303471565, ss3026349955, ss3563372609 NC_000008.11:59266526:G>T NC_000008.11:59266526:G>T (self)
ss11955832 NT_008183.16:12021634:G>T NC_000008.11:59266526:G>T (self)
ss14326431, ss19738215 NT_008183.17:12021634:G>T NC_000008.11:59266526:G>T (self)
ss23911298, ss44863071, ss66692637, ss67838222, ss67995805, ss70953631, ss71560362, ss75563546, ss79272165, ss84736720, ss105620770, ss122847222, ss154451268, ss156419631, ss159625989, ss160920561, ss161654402, ss172357150, ss174577037 NT_008183.19:12043486:G>T NC_000008.11:59266526:G>T (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 rs7837791
PMID Title Author Year Journal
27174397 Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Fan Q et al. 2016 Scientific reports

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