Skip to main page content
Accesskeys

dbSNP Short Genetic Variations

Reference SNP (rs) Report

Alpha

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.

rs7087131

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr10:129676210 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.14732 (18499/125568, TOPMED)
A=0.1679 (5191/30920, GnomAD)
A=0.156 (780/5008, 1000G) (+ 2 more)
A=0.156 (601/3854, ALSPAC)
A=0.159 (589/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MGMT : Intron Variant
Publications
2 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 10 NC_000010.11:g.129676210G>A
GRCh37.p13 chr 10 NC_000010.10:g.131474474G>A
Gene: MGMT, O-6-methylguanine-DNA methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MGMT transcript NM_002412.4:c. N/A Intron Variant
MGMT transcript variant X1 XM_005252682.2:c. N/A Intron Variant
MGMT transcript variant X2 XM_017016275.1:c. 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
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.85268 A=0.14732
The Genome Aggregation Database Global Study-wide 30920 G=0.8321 A=0.1679
The Genome Aggregation Database European Sub 18466 G=0.8105 A=0.1895
The Genome Aggregation Database African Sub 8720 G=0.879 A=0.121
The Genome Aggregation Database East Asian Sub 1614 G=0.799 A=0.201
The Genome Aggregation Database Other Sub 980 G=0.81 A=0.19
The Genome Aggregation Database American Sub 838 G=0.89 A=0.11
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=0.89 A=0.11
1000Genomes Global Study-wide 5008 G=0.844 A=0.156
1000Genomes African Sub 1322 G=0.892 A=0.108
1000Genomes East Asian Sub 1008 G=0.788 A=0.212
1000Genomes Europe Sub 1006 G=0.824 A=0.176
1000Genomes South Asian Sub 978 G=0.82 A=0.18
1000Genomes American Sub 694 G=0.89 A=0.11
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.844 A=0.156
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.841 A=0.159
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.p7 chr 10 NC_000010.11:g.129676210G= NC_000010.11:g.12967621...

NC_000010.11:g.129676210G>A

GRCh37.p13 chr 10 NC_000010.10:g.131474474G= NC_000010.10:g.13147447...

NC_000010.10:g.131474474G>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#.

72 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10618082 Jul 11, 2003 (116)
2 SSAHASNP ss20702246 Apr 05, 2004 (121)
3 ABI ss38553050 Mar 15, 2006 (126)
4 PERLEGEN ss69096593 May 17, 2007 (127)
5 ILLUMINA ss75147914 Dec 06, 2007 (129)
6 AFFY ss76769429 Dec 08, 2007 (130)
7 HUMANGENOME_JCVI ss97696020 Feb 06, 2009 (130)
8 KRIBB_YJKIM ss119540319 Dec 01, 2009 (131)
9 ENSEMBL ss131858187 Dec 01, 2009 (131)
10 ILLUMINA ss160845057 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168812717 Jul 04, 2010 (132)
12 ILLUMINA ss174234959 Jul 04, 2010 (132)
13 1000GENOMES ss211067164 Jul 14, 2010 (132)
14 1000GENOMES ss225021668 Jul 14, 2010 (132)
15 1000GENOMES ss235392302 Jul 15, 2010 (132)
16 1000GENOMES ss242058297 Jul 15, 2010 (132)
17 GMI ss280831266 May 04, 2012 (137)
18 GMI ss286290890 Apr 25, 2013 (138)
19 PJP ss290964249 May 09, 2011 (134)
20 ILLUMINA ss481457309 May 04, 2012 (137)
21 ILLUMINA ss481485263 May 04, 2012 (137)
22 ILLUMINA ss482464640 Sep 08, 2015 (146)
23 ILLUMINA ss485523845 May 04, 2012 (137)
24 ILLUMINA ss537432239 Sep 08, 2015 (146)
25 TISHKOFF ss562301762 Apr 25, 2013 (138)
26 SSMP ss657577928 Apr 25, 2013 (138)
27 ILLUMINA ss778710572 Sep 08, 2015 (146)
28 ILLUMINA ss783207451 Sep 08, 2015 (146)
29 ILLUMINA ss784162242 Sep 08, 2015 (146)
30 ILLUMINA ss832467515 Sep 08, 2015 (146)
31 ILLUMINA ss834169732 Sep 08, 2015 (146)
32 EVA-GONL ss988072231 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1077410037 Aug 21, 2014 (142)
34 1000GENOMES ss1339625717 Aug 21, 2014 (142)
35 HAMMER_LAB ss1397596672 Sep 08, 2015 (146)
36 DDI ss1426489902 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1575444996 Apr 01, 2015 (144)
38 EVA_DECODE ss1597752964 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1625743049 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1668737082 Apr 01, 2015 (144)
41 EVA_SVP ss1713223634 Apr 01, 2015 (144)
42 ILLUMINA ss1751955797 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1931429102 Feb 12, 2016 (147)
44 ILLUMINA ss1946297119 Feb 12, 2016 (147)
45 ILLUMINA ss1959308171 Feb 12, 2016 (147)
46 GENOMED ss1967261157 Jul 19, 2016 (147)
47 JJLAB ss2026455281 Sep 14, 2016 (149)
48 USC_VALOUEV ss2154735533 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2179240257 Dec 20, 2016 (150)
50 TOPMED ss2342360259 Dec 20, 2016 (150)
51 ILLUMINA ss2632783338 Nov 08, 2017 (151)
52 GRF ss2698999568 Nov 08, 2017 (151)
53 ILLUMINA ss2710725431 Nov 08, 2017 (151)
54 GNOMAD ss2894940973 Nov 08, 2017 (151)
55 SWEGEN ss3007376458 Nov 08, 2017 (151)
56 ILLUMINA ss3021290270 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3027019306 Nov 08, 2017 (151)
58 TOPMED ss3133984145 Nov 08, 2017 (151)
59 CSHL ss3349380390 Nov 08, 2017 (151)
60 ILLUMINA ss3625592099 Jul 20, 2018 (151)
61 ILLUMINA ss3626569480 Jul 20, 2018 (151)
62 ILLUMINA ss3630804447 Jul 20, 2018 (151)
63 ILLUMINA ss3632970702 Jul 20, 2018 (151)
64 ILLUMINA ss3633668837 Jul 20, 2018 (151)
65 ILLUMINA ss3634431889 Jul 20, 2018 (151)
66 ILLUMINA ss3635360855 Jul 20, 2018 (151)
67 ILLUMINA ss3636116931 Jul 20, 2018 (151)
68 ILLUMINA ss3637111624 Jul 20, 2018 (151)
69 ILLUMINA ss3637882951 Jul 20, 2018 (151)
70 ILLUMINA ss3640139230 Jul 20, 2018 (151)
71 ILLUMINA ss3642883412 Jul 20, 2018 (151)
72 ILLUMINA ss3644549896 Jul 20, 2018 (151)
73 1000Genomes NC_000010.10 - 131474474 Jul 20, 2018 (151)
74 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 131474474 Jul 20, 2018 (151)
75 The Genome Aggregation Database NC_000010.10 - 131474474 Jul 20, 2018 (151)
76 Trans-Omics for Precision Medicine NC_000010.11 - 129676210 Jul 20, 2018 (151)
77 UK 10K study - Twins NC_000010.10 - 131474474 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)
rs56510686 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss76769429, ss168812717, ss211067164, ss280831266, ss286290890, ss290964249, ss481457309, ss1397596672, ss1597752964, ss1713223634, ss3642883412 NC_000010.9:131364463:G= NC_000010.11:129676209:G= (self)
52092211, 28945998, 28642494, 28945998, ss225021668, ss235392302, ss242058297, ss481485263, ss482464640, ss485523845, ss537432239, ss562301762, ss657577928, ss778710572, ss783207451, ss784162242, ss832467515, ss834169732, ss988072231, ss1077410037, ss1339625717, ss1426489902, ss1575444996, ss1625743049, ss1668737082, ss1751955797, ss1931429102, ss1946297119, ss1959308171, ss1967261157, ss2026455281, ss2154735533, ss2342360259, ss2632783338, ss2698999568, ss2710725431, ss2894940973, ss3007376458, ss3021290270, ss3349380390, ss3625592099, ss3626569480, ss3630804447, ss3632970702, ss3633668837, ss3634431889, ss3635360855, ss3636116931, ss3637111624, ss3637882951, ss3640139230, ss3644549896 NC_000010.10:131474473:G= NC_000010.11:129676209:G= (self)
54527045, ss2179240257, ss3027019306, ss3133984145 NC_000010.11:129676209:G= NC_000010.11:129676209:G= (self)
ss10618082 NT_008818.14:2696978:G= NC_000010.11:129676209:G= (self)
ss20702246 NT_008818.15:2708404:G= NC_000010.11:129676209:G= (self)
ss38553050, ss69096593, ss75147914, ss97696020, ss119540319, ss131858187, ss160845057, ss174234959 NT_008818.16:2708404:G= NC_000010.11:129676209:G= (self)
ss76769429, ss168812717, ss211067164, ss280831266, ss286290890, ss290964249, ss481457309, ss1397596672, ss1597752964, ss1713223634, ss3642883412 NC_000010.9:131364463:G>A NC_000010.11:129676209:G>A (self)
52092211, 28945998, 28642494, 28945998, ss225021668, ss235392302, ss242058297, ss481485263, ss482464640, ss485523845, ss537432239, ss562301762, ss657577928, ss778710572, ss783207451, ss784162242, ss832467515, ss834169732, ss988072231, ss1077410037, ss1339625717, ss1426489902, ss1575444996, ss1625743049, ss1668737082, ss1751955797, ss1931429102, ss1946297119, ss1959308171, ss1967261157, ss2026455281, ss2154735533, ss2342360259, ss2632783338, ss2698999568, ss2710725431, ss2894940973, ss3007376458, ss3021290270, ss3349380390, ss3625592099, ss3626569480, ss3630804447, ss3632970702, ss3633668837, ss3634431889, ss3635360855, ss3636116931, ss3637111624, ss3637882951, ss3640139230, ss3644549896 NC_000010.10:131474473:G>A NC_000010.11:129676209:G>A (self)
54527045, ss2179240257, ss3027019306, ss3133984145 NC_000010.11:129676209:G>A NC_000010.11:129676209:G>A (self)
ss10618082 NT_008818.14:2696978:G>A NC_000010.11:129676209:G>A (self)
ss20702246 NT_008818.15:2708404:G>A NC_000010.11:129676209:G>A (self)
ss38553050, ss69096593, ss75147914, ss97696020, ss119540319, ss131858187, ss160845057, ss174234959 NT_008818.16:2708404:G>A NC_000010.11:129676209: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.

2 citations for rs7087131
PMID Title Author Year Journal
19826048 Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. Akbari MR et al. 2009 Cancer research
22454423 Genetic variations and patient-reported quality of life among patients with lung cancer. Sloan JA et al. 2012 Journal of clinical oncology

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