Skip to main page content
Accesskeys

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the Aliases tab.

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.

rs287367

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr13:68671598 (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=0.34733 (43613/125568, TOPMED)
A=0.3262 (10009/30688, GnomAD)
A=0.385 (1929/5008, 1000G) (+ 3 more)
A=0.260 (1163/4470, Estonian)
A=0.28 (166/600, NorthernSweden)
A=0.45 (96/214, Vietnamese)
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 13 NC_000013.11:g.68671598G>A
GRCh37.p13 chr 13 NC_000013.10:g.69245730G>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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.65267 A=0.34733
gnomAD - Genomes Global Study-wide 30688 G=0.6738 A=0.3262
gnomAD - Genomes European Sub 18476 G=0.7338 A=0.2662
gnomAD - Genomes African Sub 8530 G=0.563 A=0.437
gnomAD - Genomes East Asian Sub 1544 G=0.578 A=0.422
gnomAD - Genomes Other Sub 1056 G=0.711 A=0.289
gnomAD - Genomes American Sub 794 G=0.62 A=0.38
gnomAD - Genomes Ashkenazi Jewish Sub 288 G=0.65 A=0.35
1000Genomes Global Study-wide 5008 G=0.615 A=0.385
1000Genomes African Sub 1322 G=0.550 A=0.450
1000Genomes East Asian Sub 1008 G=0.560 A=0.440
1000Genomes Europe Sub 1006 G=0.724 A=0.276
1000Genomes South Asian Sub 978 G=0.67 A=0.33
1000Genomes American Sub 694 G=0.59 A=0.41
Genetic variation in the Estonian population Estonian Study-wide 4470 G=0.740 A=0.260
Northern Sweden ACPOP Study-wide 600 G=0.72 A=0.28
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.55 A=0.45
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 13 NC_000013.11:g.68671598= NC_000013.11:g.68671598G>A
GRCh37.p13 chr 13 NC_000013.10:g.69245730= NC_000013.10:g.69245730G>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#.

49 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss372225 Jul 12, 2000 (79)
2 SC_JCM ss571114 Jul 16, 2000 (87)
3 KWOK ss964149 Oct 04, 2000 (86)
4 KWOK ss965792 Oct 04, 2000 (86)
5 KWOK ss1866449 Oct 18, 2000 (87)
6 TSC-CSHL ss2109007 Oct 24, 2000 (123)
7 ABI ss40406640 Mar 14, 2006 (126)
8 PERLEGEN ss69137914 May 17, 2007 (127)
9 AFFY ss74843077 Aug 16, 2007 (128)
10 HGSV ss77825449 Dec 07, 2007 (129)
11 HGSV ss80685946 Dec 15, 2007 (130)
12 HUMANGENOME_JCVI ss97168650 Feb 05, 2009 (130)
13 1000GENOMES ss114870612 Jan 25, 2009 (130)
14 ILLUMINA-UK ss118817666 Feb 14, 2009 (130)
15 ENSEMBL ss137189551 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss169927073 Jul 04, 2010 (132)
17 BUSHMAN ss199348970 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss208638294 Jul 04, 2010 (132)
19 1000GENOMES ss226251686 Jul 14, 2010 (132)
20 1000GENOMES ss236304891 Jul 15, 2010 (132)
21 1000GENOMES ss242789593 Jul 15, 2010 (132)
22 BL ss255106654 May 09, 2011 (134)
23 GMI ss281765307 May 04, 2012 (137)
24 GMI ss286729752 Apr 25, 2013 (138)
25 PJP ss291469015 May 09, 2011 (134)
26 SSMP ss659361549 Apr 25, 2013 (138)
27 EVA-GONL ss990529549 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1079187885 Aug 21, 2014 (142)
29 1000GENOMES ss1348722116 Aug 21, 2014 (142)
30 DDI ss1427228650 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1576869261 Apr 01, 2015 (144)
32 HAMMER_LAB ss1807664122 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1933890894 Feb 12, 2016 (147)
34 GENOMED ss1967815132 Jul 19, 2016 (147)
35 JJLAB ss2027711119 Sep 14, 2016 (149)
36 USC_VALOUEV ss2156078659 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2197382848 Dec 20, 2016 (150)
38 SYSTEMSBIOZJU ss2628344416 Nov 08, 2017 (151)
39 GRF ss2700465451 Nov 08, 2017 (151)
40 GNOMAD ss2921099546 Nov 08, 2017 (151)
41 SWEGEN ss3011229591 Nov 08, 2017 (151)
42 BIOINF_KMB_FNS_UNIBA ss3027673221 Nov 08, 2017 (151)
43 TOPMED ss3196061502 Nov 08, 2017 (151)
44 URBANLAB ss3650063737 Oct 12, 2018 (152)
45 EGCUT_WGS ss3678500781 Jul 13, 2019 (153)
46 EVA_DECODE ss3695539336 Jul 13, 2019 (153)
47 ACPOP ss3739858681 Jul 13, 2019 (153)
48 EVA ss3751617962 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3816948691 Jul 13, 2019 (153)
50 1000Genomes NC_000013.10 - 69245730 Oct 12, 2018 (152)
51 Genetic variation in the Estonian population NC_000013.10 - 69245730 Oct 12, 2018 (152)
52 gnomAD - Genomes NC_000013.10 - 69245730 Jul 13, 2019 (153)
53 Northern Sweden NC_000013.10 - 69245730 Jul 13, 2019 (153)
54 TopMed NC_000013.11 - 68671598 Oct 12, 2018 (152)
55 A Vietnamese Genetic Variation Database NC_000013.10 - 69245730 Jul 13, 2019 (153)
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)
rs430470 Oct 23, 2000 (87)
rs1577423 Sep 24, 2004 (123)
rs52816678 Sep 21, 2007 (128)
rs58768463 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77825449, ss80685946, ss114870612, ss118817666, ss169927073, ss199348970, ss208638294, ss255106654, ss281765307, ss286729752, ss291469015 NC_000013.9:68143730:G:A NC_000013.11:68671597:G:A (self)
61613701, 24239029, 168202667, 13143546, 7600753, ss226251686, ss236304891, ss242789593, ss659361549, ss990529549, ss1079187885, ss1348722116, ss1427228650, ss1576869261, ss1807664122, ss1933890894, ss1967815132, ss2027711119, ss2156078659, ss2628344416, ss2700465451, ss2921099546, ss3011229591, ss3678500781, ss3739858681, ss3751617962 NC_000013.10:69245729:G:A NC_000013.11:68671597:G:A (self)
104117493, ss2197382848, ss3027673221, ss3196061502, ss3650063737, ss3695539336, ss3816948691 NC_000013.11:68671597:G:A NC_000013.11:68671597:G:A (self)
ss372225, ss571114, ss964149, ss965792, ss1866449, ss2109007, ss40406640, ss69137914, ss74843077, ss97168650, ss137189551 NT_024524.14:50225729:G:A NC_000013.11:68671597: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 rs287367

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.post308+0fe9b3b