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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.

rs12722987

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr1:20128727 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.16894 (21213/125568, TOPMED)
A=0.1742 (5389/30928, GnomAD)
A=0.155 (776/5008, 1000G) (+ 2 more)
A=0.170 (656/3854, ALSPAC)
A=0.172 (638/3708, 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 1 NC_000001.11:g.20128727C>A
GRCh37.p13 chr 1 NC_000001.10:g.20455220C>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").

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Study Population Group Sample Size Ref Allele Alt Allele
Trans-Omics for Precision Medicine Global Study-wide 125568 C=0.83106 A=0.16894
The Genome Aggregation Database Global Study-wide 30928 C=0.8258 A=0.1742
The Genome Aggregation Database European Sub 18462 C=0.8196 A=0.1804
The Genome Aggregation Database African Sub 8724 C=0.822 A=0.178
The Genome Aggregation Database East Asian Sub 1620 C=0.918 A=0.082
The Genome Aggregation Database Other Sub 982 C=0.82 A=0.18
The Genome Aggregation Database American Sub 838 C=0.79 A=0.21
The Genome Aggregation Database Ashkenazi Jewish Sub 302 C=0.92 A=0.08
1000Genomes Global Study-wide 5008 C=0.845 A=0.155
1000Genomes African Sub 1322 C=0.812 A=0.188
1000Genomes East Asian Sub 1008 C=0.912 A=0.088
1000Genomes Europe Sub 1006 C=0.827 A=0.173
1000Genomes South Asian Sub 978 C=0.85 A=0.15
1000Genomes American Sub 694 C=0.84 A=0.16
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.830 A=0.170
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.828 A=0.172
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= A Note
GRCh38.p7 chr 1 NC_000001.11:g.20128727C= NC_000001.11:g.20128727C>A
GRCh37.p13 chr 1 NC_000001.10:g.20455220C= NC_000001.10:g.20455220C>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#.

5 Frequency, 71 SubSNP submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss20430556 Apr 05, 2004 (121)
2 ABI ss41270375 Mar 13, 2006 (126)
3 PERLEGEN ss68760657 May 18, 2007 (127)
4 BCMHGSC_JDW ss87280617 Mar 23, 2008 (129)
5 HUMANGENOME_JCVI ss99192121 Feb 05, 2009 (130)
6 1000GENOMES ss108044082 Jan 22, 2009 (130)
7 ENSEMBL ss137832507 Dec 01, 2009 (131)
8 ILLUMINA ss160297007 Dec 01, 2009 (131)
9 ILLUMINA ss172233279 Jul 04, 2010 (132)
10 BUSHMAN ss198129921 Jul 04, 2010 (132)
11 BCM-HGSC-SUB ss205403255 Jul 04, 2010 (132)
12 1000GENOMES ss218271668 Jul 14, 2010 (132)
13 1000GENOMES ss230453252 Jul 14, 2010 (132)
14 1000GENOMES ss238163275 Jul 15, 2010 (132)
15 GMI ss284014135 Apr 25, 2013 (138)
16 PJP ss290781358 May 09, 2011 (134)
17 ILLUMINA ss479812790 May 04, 2012 (137)
18 ILLUMINA ss479819903 May 04, 2012 (137)
19 ILLUMINA ss480404798 Sep 08, 2015 (146)
20 ILLUMINA ss484704882 May 04, 2012 (137)
21 ILLUMINA ss536810921 Sep 08, 2015 (146)
22 TISHKOFF ss553865785 Apr 25, 2013 (138)
23 SSMP ss647624773 Apr 25, 2013 (138)
24 ILLUMINA ss778414833 Sep 08, 2015 (146)
25 ILLUMINA ss782799212 Sep 08, 2015 (146)
26 ILLUMINA ss783764760 Sep 08, 2015 (146)
27 ILLUMINA ss832052162 Sep 08, 2015 (146)
28 ILLUMINA ss833870148 Sep 08, 2015 (146)
29 EVA-GONL ss974922704 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1067718415 Aug 21, 2014 (142)
31 1000GENOMES ss1289944804 Aug 21, 2014 (142)
32 HAMMER_LAB ss1397241064 Sep 08, 2015 (146)
33 EVA_GENOME_DK ss1573926598 Apr 01, 2015 (144)
34 EVA_DECODE ss1584280776 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1599679458 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1642673491 Apr 01, 2015 (144)
37 ILLUMINA ss1751893260 Sep 08, 2015 (146)
38 HAMMER_LAB ss1794023182 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1918134553 Feb 12, 2016 (147)
40 ILLUMINA ss1945987144 Feb 12, 2016 (147)
41 ILLUMINA ss1958250005 Feb 12, 2016 (147)
42 JJLAB ss2019578914 Sep 14, 2016 (149)
43 USC_VALOUEV ss2147582366 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2160538632 Dec 20, 2016 (150)
45 TOPMED ss2322721009 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2624305747 Nov 08, 2017 (151)
47 ILLUMINA ss2632486743 Nov 08, 2017 (151)
48 GRF ss2697486906 Nov 08, 2017 (151)
49 ILLUMINA ss2710667339 Nov 08, 2017 (151)
50 GNOMAD ss2752403057 Nov 08, 2017 (151)
51 AFFY ss2984848373 Nov 08, 2017 (151)
52 AFFY ss2985500991 Nov 08, 2017 (151)
53 SWEGEN ss2986427613 Nov 08, 2017 (151)
54 ILLUMINA ss3021063394 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3023554524 Nov 08, 2017 (151)
56 TOPMED ss3070323271 Nov 08, 2017 (151)
57 CSHL ss3343356130 Nov 08, 2017 (151)
58 ILLUMINA ss3625527507 Jul 19, 2018 (151)
59 ILLUMINA ss3626042703 Jul 19, 2018 (151)
60 ILLUMINA ss3630524556 Jul 19, 2018 (151)
61 ILLUMINA ss3632883397 Jul 19, 2018 (151)
62 ILLUMINA ss3633577409 Jul 19, 2018 (151)
63 ILLUMINA ss3634311072 Jul 19, 2018 (151)
64 ILLUMINA ss3635271462 Jul 19, 2018 (151)
65 ILLUMINA ss3635987313 Jul 19, 2018 (151)
66 ILLUMINA ss3637021843 Jul 19, 2018 (151)
67 ILLUMINA ss3637741490 Jul 19, 2018 (151)
68 ILLUMINA ss3640018436 Jul 19, 2018 (151)
69 ILLUMINA ss3640976110 Jul 19, 2018 (151)
70 ILLUMINA ss3641269978 Jul 19, 2018 (151)
71 ILLUMINA ss3644482998 Jul 19, 2018 (151)
72 1000Genomes NC_000001.10 - 20455220 Jul 19, 2018 (151)
73 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 20455220 Jul 19, 2018 (151)
74 The Genome Aggregation Database NC_000001.10 - 20455220 Jul 19, 2018 (151)
75 Trans-Omics for Precision Medicine NC_000001.11 - 20128727 Jul 19, 2018 (151)
76 UK 10K study - Twins NC_000001.10 - 20455220 Jul 19, 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).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss87280617, ss108044082, ss198129921, ss205403255, ss284014135, ss290781358, ss479812790, ss1397241064, ss1584280776 NC_000001.9:20327806:C= NC_000001.11:20128726:C= (self)
629570, 331117, 1802256, 331117, ss218271668, ss230453252, ss238163275, ss479819903, ss480404798, ss484704882, ss536810921, ss553865785, ss647624773, ss778414833, ss782799212, ss783764760, ss832052162, ss833870148, ss974922704, ss1067718415, ss1289944804, ss1573926598, ss1599679458, ss1642673491, ss1751893260, ss1794023182, ss1918134553, ss1945987144, ss1958250005, ss2019578914, ss2147582366, ss2322721009, ss2624305747, ss2632486743, ss2697486906, ss2710667339, ss2752403057, ss2984848373, ss2985500991, ss2986427613, ss3021063394, ss3343356130, ss3625527507, ss3626042703, ss3630524556, ss3632883397, ss3633577409, ss3634311072, ss3635271462, ss3635987313, ss3637021843, ss3637741490, ss3640018436, ss3640976110, ss3641269978, ss3644482998 NC_000001.10:20455219:C= NC_000001.11:20128726:C= (self)
3111613, ss2160538632, ss3023554524, ss3070323271 NC_000001.11:20128726:C= NC_000001.11:20128726:C= (self)
ss20430556 NT_004610.16:1258469:C= NC_000001.11:20128726:C= (self)
ss41270375, ss68760657, ss99192121, ss137832507, ss160297007, ss172233279 NT_004610.19:7135307:C= NC_000001.11:20128726:C= (self)
ss87280617, ss108044082, ss198129921, ss205403255, ss284014135, ss290781358, ss479812790, ss1397241064, ss1584280776 NC_000001.9:20327806:C>A NC_000001.11:20128726:C>A (self)
629570, 331117, 1802256, 331117, ss218271668, ss230453252, ss238163275, ss479819903, ss480404798, ss484704882, ss536810921, ss553865785, ss647624773, ss778414833, ss782799212, ss783764760, ss832052162, ss833870148, ss974922704, ss1067718415, ss1289944804, ss1573926598, ss1599679458, ss1642673491, ss1751893260, ss1794023182, ss1918134553, ss1945987144, ss1958250005, ss2019578914, ss2147582366, ss2322721009, ss2624305747, ss2632486743, ss2697486906, ss2710667339, ss2752403057, ss2984848373, ss2985500991, ss2986427613, ss3021063394, ss3343356130, ss3625527507, ss3626042703, ss3630524556, ss3632883397, ss3633577409, ss3634311072, ss3635271462, ss3635987313, ss3637021843, ss3637741490, ss3640018436, ss3640976110, ss3641269978, ss3644482998 NC_000001.10:20455219:C>A NC_000001.11:20128726:C>A (self)
3111613, ss2160538632, ss3023554524, ss3070323271 NC_000001.11:20128726:C>A NC_000001.11:20128726:C>A (self)
ss20430556 NT_004610.16:1258469:C>A NC_000001.11:20128726:C>A (self)
ss41270375, ss68760657, ss99192121, ss137832507, ss160297007, ss172233279 NT_004610.19:7135307:C>A NC_000001.11:20128726:C>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 rs12722987

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