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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.

rs10131141

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr14:20793574 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.36950 (46397/125568, TOPMED)
C=0.3699 (11426/30888, GnomAD)
C=0.315 (1576/5008, 1000G) (+ 3 more)
C=0.335 (1500/4480, Estonian)
C=0.400 (1541/3854, ALSPAC)
C=0.395 (1464/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105370397 : Intron Variant
LOC107984671 : Intron Variant
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.p12 chr 14 NC_000014.9:g.20793574C>T
GRCh37.p13 chr 14 NC_000014.8:g.21261733C>T
Gene: LOC105370397, uncharacterized LOC105370397 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105370397 transcript variant X1 XR_001750620.1:n. N/A Intron Variant
LOC105370397 transcript variant X2 XR_001750621.1:n. N/A Intron Variant
Gene: LOC107984671, uncharacterized LOC107984671 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107984671 transcript variant X1 XR_001750622.1:n. N/A Intron Variant
LOC107984671 transcript variant X2 XR_001750623.1:n. N/A Intron Variant
LOC107984671 transcript variant X3 XR_001750624.1:n. N/A Intron 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
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
TopMed Global Study-wide 125568 C=0.36950 T=0.63050
gnomAD - Genomes Global Study-wide 30888 C=0.3699 T=0.6301
gnomAD - Genomes European Sub 18456 C=0.3841 T=0.6159
gnomAD - Genomes African Sub 8694 C=0.371 T=0.629
gnomAD - Genomes East Asian Sub 1618 C=0.233 T=0.767
gnomAD - Genomes Other Sub 980 C=0.36 T=0.64
gnomAD - Genomes American Sub 838 C=0.32 T=0.68
gnomAD - Genomes Ashkenazi Jewish Sub 302 C=0.41 T=0.59
1000Genomes Global Study-wide 5008 C=0.315 T=0.685
1000Genomes African Sub 1322 C=0.401 T=0.599
1000Genomes East Asian Sub 1008 C=0.247 T=0.753
1000Genomes Europe Sub 1006 C=0.385 T=0.615
1000Genomes South Asian Sub 978 C=0.21 T=0.79
1000Genomes American Sub 694 C=0.30 T=0.70
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.335 T=0.665
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.400 T=0.600
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.395 T=0.605
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.p12 chr 14 NC_000014.9:g.20793574C= NC_000014.9:g.20793574C>T
GRCh37.p13 chr 14 NC_000014.8:g.21261733C= NC_000014.8:g.21261733C>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#.

78 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13989859 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss19289505 Feb 27, 2004 (120)
3 SSAHASNP ss21164569 Apr 05, 2004 (121)
4 ABI ss40524595 Mar 13, 2006 (126)
5 PERLEGEN ss69150113 May 17, 2007 (127)
6 HGSV ss78390267 Dec 06, 2007 (129)
7 HGSV ss83905791 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss89870354 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss96898053 Feb 06, 2009 (130)
10 BGI ss106371385 Feb 06, 2009 (130)
11 1000GENOMES ss108154727 Jan 23, 2009 (130)
12 1000GENOMES ss115376733 Jan 25, 2009 (130)
13 ILLUMINA-UK ss118370501 Feb 14, 2009 (130)
14 ENSEMBL ss132294954 Dec 01, 2009 (131)
15 ENSEMBL ss133859721 Dec 01, 2009 (131)
16 GMI ss155489941 Dec 01, 2009 (131)
17 ILLUMINA ss159867695 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss167631802 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss168851716 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss170831345 Jul 04, 2010 (132)
21 BUSHMAN ss199792900 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss206982820 Jul 04, 2010 (132)
23 1000GENOMES ss226449703 Jul 14, 2010 (132)
24 1000GENOMES ss236453547 Jul 15, 2010 (132)
25 1000GENOMES ss242906286 Jul 15, 2010 (132)
26 BL ss254822294 May 09, 2011 (134)
27 GMI ss281913940 May 04, 2012 (137)
28 GMI ss286800137 Apr 25, 2013 (138)
29 PJP ss291679201 May 09, 2011 (134)
30 ILLUMINA ss479197656 May 04, 2012 (137)
31 ILLUMINA ss479200103 May 04, 2012 (137)
32 ILLUMINA ss479537086 Sep 08, 2015 (146)
33 ILLUMINA ss484399826 May 04, 2012 (137)
34 ILLUMINA ss536580018 Sep 08, 2015 (146)
35 TISHKOFF ss563956711 Apr 25, 2013 (138)
36 SSMP ss659615984 Apr 25, 2013 (138)
37 ILLUMINA ss778724021 Sep 08, 2015 (146)
38 ILLUMINA ss782646290 Sep 08, 2015 (146)
39 ILLUMINA ss783615616 Sep 08, 2015 (146)
40 ILLUMINA ss831896572 Sep 08, 2015 (146)
41 ILLUMINA ss834183444 Sep 08, 2015 (146)
42 EVA-GONL ss990905709 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1079474329 Aug 21, 2014 (142)
44 1000GENOMES ss1350110300 Aug 21, 2014 (142)
45 DDI ss1427350066 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1577108174 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1631267267 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1674261300 Apr 01, 2015 (144)
49 EVA_DECODE ss1694895814 Apr 01, 2015 (144)
50 ILLUMINA ss1752123839 Sep 08, 2015 (146)
51 HAMMER_LAB ss1807820802 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1934282180 Feb 12, 2016 (147)
53 GENOMED ss1967909310 Jul 19, 2016 (147)
54 JJLAB ss2027915200 Sep 14, 2016 (149)
55 USC_VALOUEV ss2156285829 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2200154394 Dec 20, 2016 (150)
57 TOPMED ss2364421853 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2628445498 Nov 08, 2017 (151)
59 ILLUMINA ss2633122899 Nov 08, 2017 (151)
60 GRF ss2700698930 Nov 08, 2017 (151)
61 GNOMAD ss2925149282 Nov 08, 2017 (151)
62 AFFY ss2985649409 Nov 08, 2017 (151)
63 SWEGEN ss3011834067 Nov 08, 2017 (151)
64 ILLUMINA ss3021548580 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3027779572 Nov 08, 2017 (151)
66 TOPMED ss3205342027 Nov 08, 2017 (151)
67 CSHL ss3350699492 Nov 08, 2017 (151)
68 ILLUMINA ss3627169186 Oct 12, 2018 (152)
69 ILLUMINA ss3631122875 Oct 12, 2018 (152)
70 ILLUMINA ss3633068275 Oct 12, 2018 (152)
71 ILLUMINA ss3633771351 Oct 12, 2018 (152)
72 ILLUMINA ss3634566156 Oct 12, 2018 (152)
73 ILLUMINA ss3635461011 Oct 12, 2018 (152)
74 ILLUMINA ss3636255520 Oct 12, 2018 (152)
75 ILLUMINA ss3637212144 Oct 12, 2018 (152)
76 ILLUMINA ss3640273484 Oct 12, 2018 (152)
77 URBANLAB ss3650154744 Oct 12, 2018 (152)
78 ILLUMINA ss3651938747 Oct 12, 2018 (152)
79 1000Genomes NC_000014.8 - 21261733 Oct 12, 2018 (152)
80 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 21261733 Oct 12, 2018 (152)
81 Genetic variation in the Estonian population NC_000014.8 - 21261733 Oct 12, 2018 (152)
82 gnomAD - Genomes NC_000014.8 - 21261733 Oct 12, 2018 (152)
83 TopMed NC_000014.9 - 20793574 Oct 12, 2018 (152)
84 UK 10K study - Twins NC_000014.8 - 21261733 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)
rs60813692 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss78390267, ss83905791, ss89870354, ss108154727, ss115376733, ss118370501, ss167631802, ss168851716, ss170831345, ss199792900, ss206982820, ss254822294, ss281913940, ss286800137, ss291679201, ss479197656, ss1694895814 NC_000014.7:20331572:C:T NC_000014.9:20793573:C:T (self)
63056127, 35027771, 24813922, 58850807, 35027771, ss226449703, ss236453547, ss242906286, ss479200103, ss479537086, ss484399826, ss536580018, ss563956711, ss659615984, ss778724021, ss782646290, ss783615616, ss831896572, ss834183444, ss990905709, ss1079474329, ss1350110300, ss1427350066, ss1577108174, ss1631267267, ss1674261300, ss1752123839, ss1807820802, ss1934282180, ss1967909310, ss2027915200, ss2156285829, ss2364421853, ss2628445498, ss2633122899, ss2700698930, ss2925149282, ss2985649409, ss3011834067, ss3021548580, ss3350699492, ss3627169186, ss3631122875, ss3633068275, ss3633771351, ss3634566156, ss3635461011, ss3636255520, ss3637212144, ss3640273484, ss3651938747 NC_000014.8:21261732:C:T NC_000014.9:20793573:C:T (self)
111637186, ss2200154394, ss3027779572, ss3205342027, ss3650154744 NC_000014.9:20793573:C:T NC_000014.9:20793573:C:T (self)
ss13989859, ss19289505, ss21164569 NT_026437.10:1181860:C:T NC_000014.9:20793573:C:T (self)
ss40524595, ss69150113, ss96898053, ss106371385, ss132294954, ss133859721, ss155489941, ss159867695 NT_026437.12:2261732:C:T NC_000014.9:20793573: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.

1 citation for rs10131141
PMID Title Author Year Journal
23251661 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG et al. 2012 PloS one

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