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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 HGVS 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.

rs1015537

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:26143201 (GRCh38.p13) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000026 (7/264690, TOPMED)
A=0.000007 (1/139908, GnomAD)
A=0.00001 (1/98014, ALFA) (+ 3 more)
A=0.0002 (1/5008, 1000G)
A=0.003 (2/792, PRJEB37584)
A=0.000 (0/328, HapMap)
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.p13 chr 7 NC_000007.14:g.26143201G>A
GRCh38.p13 chr 7 NC_000007.14:g.26143201G>C
GRCh37.p13 chr 7 NC_000007.13:g.26182821G>A
GRCh37.p13 chr 7 NC_000007.13:g.26182821G>C
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

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 98014 G=0.99999 A=0.00001, C=0.00000
European Sub 86752 G=0.99999 A=0.00001, C=0.00000
African Sub 5122 G=1.0000 A=0.0000, C=0.0000
African Others Sub 208 G=1.000 A=0.000, C=0.000
African American Sub 4914 G=1.0000 A=0.0000, C=0.0000
Asian Sub 594 G=1.000 A=0.000, C=0.000
East Asian Sub 468 G=1.000 A=0.000, C=0.000
Other Asian Sub 126 G=1.000 A=0.000, C=0.000
Latin American 1 Sub 650 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 2154 G=1.0000 A=0.0000, C=0.0000
South Asian Sub 168 G=1.000 A=0.000, C=0.000
Other Sub 2574 G=1.0000 A=0.0000, C=0.0000


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 264690 G=0.999974 A=0.000026
gnomAD - Genomes Global Study-wide 139908 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75854 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 41860 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13606 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3128 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2140 G=0.9995 A=0.0005
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.997 A=0.003
CNV burdens in cranial meningiomas CRM Sub 792 G=0.997 A=0.003
HapMap Global Study-wide 328 G=1.000 A=0.000
HapMap African Sub 120 G=1.000 A=0.000
HapMap American Sub 120 G=1.000 A=0.000
HapMap Asian Sub 88 G=1.00 A=0.00
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 C
GRCh38.p13 chr 7 NC_000007.14:g.26143201= NC_000007.14:g.26143201G>A NC_000007.14:g.26143201G>C
GRCh37.p13 chr 7 NC_000007.13:g.26182821= NC_000007.13:g.26182821G>A NC_000007.13:g.26182821G>C
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#.

35 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1479105 Oct 05, 2000 (86)
2 SC_JCM ss5834334 Feb 20, 2003 (111)
3 ABI ss44821182 Mar 13, 2006 (126)
4 ILLUMINA ss159870969 Dec 01, 2009 (131)
5 1000GENOMES ss333984068 May 09, 2011 (134)
6 ILLUMINA ss479206280 May 04, 2012 (137)
7 ILLUMINA ss479208821 May 04, 2012 (137)
8 ILLUMINA ss479550090 Sep 08, 2015 (146)
9 ILLUMINA ss484404104 May 04, 2012 (137)
10 ILLUMINA ss536583170 Sep 08, 2015 (146)
11 ILLUMINA ss778724904 Aug 21, 2014 (142)
12 ILLUMINA ss782648458 Aug 21, 2014 (142)
13 ILLUMINA ss783617730 Aug 21, 2014 (142)
14 ILLUMINA ss831898759 Apr 01, 2015 (144)
15 ILLUMINA ss834184335 Aug 21, 2014 (142)
16 1000GENOMES ss1324382093 Aug 21, 2014 (142)
17 ILLUMINA ss1752680004 Sep 08, 2015 (146)
18 TOPMED ss2461462285 Dec 20, 2016 (150)
19 ILLUMINA ss2634582608 Nov 08, 2017 (151)
20 TOPMED ss3525401757 Nov 08, 2017 (151)
21 ILLUMINA ss3629776637 Oct 12, 2018 (152)
22 ILLUMINA ss3632491326 Oct 12, 2018 (152)
23 ILLUMINA ss3633456848 Oct 12, 2018 (152)
24 ILLUMINA ss3634181458 Oct 12, 2018 (152)
25 ILLUMINA ss3635113299 Oct 12, 2018 (152)
26 ILLUMINA ss3635861427 Oct 12, 2018 (152)
27 ILLUMINA ss3636843965 Oct 12, 2018 (152)
28 ILLUMINA ss3637614370 Oct 12, 2018 (152)
29 ILLUMINA ss3640820595 Oct 12, 2018 (152)
30 ILLUMINA ss3745413248 Jul 13, 2019 (153)
31 ILLUMINA ss3772906362 Jul 13, 2019 (153)
32 EVA ss3984585349 Apr 26, 2021 (155)
33 EVA ss4017326626 Apr 26, 2021 (155)
34 GNOMAD ss4160263021 Apr 26, 2021 (155)
35 TOPMED ss4739488388 Apr 26, 2021 (155)
36 1000Genomes NC_000007.13 - 26182821 Oct 12, 2018 (152)
37 gnomAD - Genomes NC_000007.14 - 26143201 Apr 26, 2021 (155)
38 HapMap NC_000007.14 - 26143201 Apr 26, 2020 (154)
39 CNV burdens in cranial meningiomas NC_000007.13 - 26182821 Apr 26, 2021 (155)
40 TopMed NC_000007.14 - 26143201 Apr 26, 2021 (155)
41 ALFA NC_000007.14 - 26143201 Apr 26, 2021 (155)
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)
rs386510445 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss479206280 NC_000007.12:26149345:G:A NC_000007.14:26143200:G:A (self)
36325246, 134770, ss333984068, ss479208821, ss479550090, ss484404104, ss536583170, ss778724904, ss782648458, ss783617730, ss831898759, ss834184335, ss1324382093, ss1752680004, ss2461462285, ss2634582608, ss3629776637, ss3632491326, ss3633456848, ss3634181458, ss3635113299, ss3635861427, ss3636843965, ss3637614370, ss3640820595, ss3745413248, ss3772906362, ss3984585349, ss4017326626 NC_000007.13:26182820:G:A NC_000007.14:26143200:G:A (self)
256124951, 3361114, 360863853, 576865947, 5368822580, ss3525401757, ss4160263021, ss4739488388 NC_000007.14:26143200:G:A NC_000007.14:26143200:G:A (self)
ss1479105, ss5834334, ss44821182, ss159870969 NT_007819.17:26172820:G:A NC_000007.14:26143200:G:A (self)
5368822580 NC_000007.14:26143200:G:C NC_000007.14:26143200:G:C
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 rs1015537

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

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.post596+ae089ad