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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.

rs13437751

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr7:63886508 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.20837 (26165/125568, TOPMED)
T=0.1933 (5976/30908, GnomAD)
T=0.259 (1298/5008, 1000G) (+ 2 more)
T=0.089 (342/3854, ALSPAC)
T=0.094 (349/3708, 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.p7 chr 7 NC_000007.14:g.63886508C>T
GRCh37.p13 chr 7 NC_000007.13:g.63346886C>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 C=0.79163 T=0.20837
The Genome Aggregation Database Global Study-wide 30908 C=0.8067 T=0.1933
The Genome Aggregation Database European Sub 18472 C=0.9055 T=0.0945
The Genome Aggregation Database African Sub 8700 C=0.612 T=0.388
The Genome Aggregation Database East Asian Sub 1618 C=0.720 T=0.280
The Genome Aggregation Database Other Sub 978 C=0.88 T=0.12
The Genome Aggregation Database American Sub 838 C=0.71 T=0.29
The Genome Aggregation Database Ashkenazi Jewish Sub 302 C=0.86 T=0.14
1000Genomes Global Study-wide 5008 C=0.741 T=0.259
1000Genomes African Sub 1322 C=0.575 T=0.425
1000Genomes East Asian Sub 1008 C=0.685 T=0.315
1000Genomes Europe Sub 1006 C=0.919 T=0.081
1000Genomes South Asian Sub 978 C=0.84 T=0.16
1000Genomes American Sub 694 C=0.74 T=0.26
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.911 T=0.089
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.906 T=0.094
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= T Note
GRCh38.p7 chr 7 NC_000007.14:g.63886508C= NC_000007.14:g.63886508C>T
GRCh37.p13 chr 7 NC_000007.13:g.63346886C= NC_000007.13:g.63346886C>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, 56 SubSNP submissions
No Submitter Submission ID Date (Build)
1 WUGSC_SSAHASNP ss23117248 Apr 05, 2004 (121)
2 ILLUMINA ss66769445 Dec 01, 2006 (127)
3 ILLUMINA ss67081295 Dec 01, 2006 (127)
4 ILLUMINA ss67413933 Dec 01, 2006 (127)
5 PERLEGEN ss69017561 May 17, 2007 (127)
6 ILLUMINA ss70424479 May 17, 2007 (127)
7 ILLUMINA ss70606344 May 25, 2008 (130)
8 ILLUMINA ss71153176 May 17, 2007 (127)
9 ILLUMINA ss75712284 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss85322845 Dec 15, 2007 (130)
11 1000GENOMES ss112083466 Jan 25, 2009 (130)
12 ILLUMINA-UK ss116109310 Feb 14, 2009 (130)
13 ILLUMINA ss121649936 Dec 01, 2009 (131)
14 ILLUMINA ss153377452 Dec 01, 2009 (131)
15 ILLUMINA ss159257865 Dec 01, 2009 (131)
16 ILLUMINA ss160338689 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss166661262 Jul 04, 2010 (132)
18 ILLUMINA ss170384567 Jul 04, 2010 (132)
19 ILLUMINA ss172426572 Jul 04, 2010 (132)
20 BUSHMAN ss203415851 Jul 04, 2010 (132)
21 1000GENOMES ss223108885 Jul 14, 2010 (132)
22 1000GENOMES ss234002676 Jul 15, 2010 (132)
23 1000GENOMES ss240951859 Jul 15, 2010 (132)
24 BL ss254369250 May 09, 2011 (134)
25 GMI ss279354233 May 04, 2012 (137)
26 ILLUMINA ss480573112 Sep 08, 2015 (146)
27 TISHKOFF ss560036824 Apr 25, 2013 (138)
28 SSMP ss654417794 Apr 25, 2013 (138)
29 ILLUMINA ss825393753 Apr 01, 2015 (144)
30 EVA-GONL ss984336055 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1074651522 Aug 21, 2014 (142)
32 1000GENOMES ss1325373123 Aug 21, 2014 (142)
33 DDI ss1431148622 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1582227056 Apr 01, 2015 (144)
35 EVA_DECODE ss1593909342 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1618312947 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1661306980 Apr 01, 2015 (144)
38 EVA_SVP ss1712958704 Apr 01, 2015 (144)
39 HAMMER_LAB ss1805027617 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1927594601 Feb 12, 2016 (147)
41 GENOMED ss1970715699 Jul 19, 2016 (147)
42 JJLAB ss2024478482 Sep 14, 2016 (149)
43 USC_VALOUEV ss2152689114 Dec 20, 2016 (150)
44 TOPMED ss2463523764 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2626727623 Nov 08, 2017 (151)
46 GRF ss2708380180 Nov 08, 2017 (151)
47 GNOMAD ss2853886911 Nov 08, 2017 (151)
48 SWEGEN ss3001285280 Nov 08, 2017 (151)
49 ILLUMINA ss3022740478 Nov 08, 2017 (151)
50 CSHL ss3347632843 Nov 08, 2017 (151)
51 TOPMED ss3532388954 Nov 08, 2017 (151)
52 ILLUMINA ss3636855964 Jul 20, 2018 (151)
53 ILLUMINA ss3638700264 Jul 20, 2018 (151)
54 ILLUMINA ss3639352757 Jul 20, 2018 (151)
55 ILLUMINA ss3639704439 Jul 20, 2018 (151)
56 ILLUMINA ss3643635795 Jul 20, 2018 (151)
57 1000Genomes NC_000007.13 - 63346886 Jul 20, 2018 (151)
58 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 63346886 Jul 20, 2018 (151)
59 The Genome Aggregation Database NC_000007.13 - 63346886 Jul 20, 2018 (151)
60 Trans-Omics for Precision Medicine NC_000007.14 - 63886508 Jul 20, 2018 (151)
61 UK 10K study - Twins NC_000007.13 - 63346886 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)
rs59935527 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3639352757, ss3639704439 NC_000007.11:62791035:C= NC_000007.14:63886507:C=
ss112083466, ss116109310, ss166661262, ss203415851, ss254369250, ss279354233, ss825393753, ss1593909342, ss1712958704, ss3643635795 NC_000007.12:62984320:C= NC_000007.14:63886507:C= (self)
37349726, 20800226, 194514669, 20800226, ss223108885, ss234002676, ss240951859, ss480573112, ss560036824, ss654417794, ss984336055, ss1074651522, ss1325373123, ss1431148622, ss1582227056, ss1618312947, ss1661306980, ss1805027617, ss1927594601, ss1970715699, ss2024478482, ss2152689114, ss2463523764, ss2626727623, ss2708380180, ss2853886911, ss3001285280, ss3022740478, ss3347632843, ss3636855964, ss3638700264 NC_000007.13:63346885:C= NC_000007.14:63886507:C= (self)
366187351, ss3532388954 NC_000007.14:63886507:C= NC_000007.14:63886507:C= (self)
ss23117248 NT_007758.10:1379728:C= NC_000007.14:63886507:C= (self)
ss66769445, ss67081295, ss67413933, ss69017561, ss70424479, ss70606344, ss71153176, ss75712284, ss85322845, ss121649936, ss153377452, ss159257865, ss160338689, ss170384567, ss172426572 NT_007933.15:1379728:C= NC_000007.14:63886507:C= (self)
ss3639352757, ss3639704439 NC_000007.11:62791035:C>T NC_000007.14:63886507:C>T
ss112083466, ss116109310, ss166661262, ss203415851, ss254369250, ss279354233, ss825393753, ss1593909342, ss1712958704, ss3643635795 NC_000007.12:62984320:C>T NC_000007.14:63886507:C>T (self)
37349726, 20800226, 194514669, 20800226, ss223108885, ss234002676, ss240951859, ss480573112, ss560036824, ss654417794, ss984336055, ss1074651522, ss1325373123, ss1431148622, ss1582227056, ss1618312947, ss1661306980, ss1805027617, ss1927594601, ss1970715699, ss2024478482, ss2152689114, ss2463523764, ss2626727623, ss2708380180, ss2853886911, ss3001285280, ss3022740478, ss3347632843, ss3636855964, ss3638700264 NC_000007.13:63346885:C>T NC_000007.14:63886507:C>T (self)
366187351, ss3532388954 NC_000007.14:63886507:C>T NC_000007.14:63886507:C>T (self)
ss23117248 NT_007758.10:1379728:C>T NC_000007.14:63886507:C>T (self)
ss66769445, ss67081295, ss67413933, ss69017561, ss70424479, ss70606344, ss71153176, ss75712284, ss85322845, ss121649936, ss153377452, ss159257865, ss160338689, ss170384567, ss172426572 NT_007933.15:1379728:C>T NC_000007.14:63886507: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 rs13437751

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