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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.

rs12360870

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr11:94440881 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.16483 (20698/125568, TOPMED)
C=0.1540 (4762/30922, GnomAD)
C=0.186 (933/5008, 1000G) (+ 2 more)
C=0.106 (410/3854, ALSPAC)
C=0.113 (418/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MRE11A : Intron Variant
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 11 NC_000011.10:g.94440881T>C
GRCh37.p13 chr 11 NC_000011.9:g.94174047T>C
MRE11 RefSeqGene (LRG_85) NG_007261.1:g.57994A>G
Gene: MRE11A, MRE11 homolog A, double strand break repair nuclease (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MRE11 transcript variant 2 NM_005590.3:c. N/A Intron Variant
MRE11 transcript variant 1 NM_005591.3:c. N/A Intron Variant
MRE11 transcript variant X5 XM_005274008.3:c. N/A Intron Variant
MRE11 transcript variant X4 XM_006718842.3:c. N/A Intron Variant
MRE11 transcript variant X3 XM_011542837.2:c. N/A Intron Variant
MRE11 transcript variant X1 XM_017017772.1:c. N/A Intron Variant
MRE11A transcript variant X5 XM_017017773.1:c. N/A Intron Variant
MRE11 transcript variant X2 XR_947828.2: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
Trans-Omics for Precision Medicine Global Study-wide 125568 T=0.83517 C=0.16483
The Genome Aggregation Database Global Study-wide 30922 T=0.8460 C=0.1540
The Genome Aggregation Database European Sub 18482 T=0.9004 C=0.0996
The Genome Aggregation Database African Sub 8704 T=0.709 C=0.291
The Genome Aggregation Database East Asian Sub 1618 T=0.915 C=0.085
The Genome Aggregation Database Other Sub 978 T=0.88 C=0.12
The Genome Aggregation Database American Sub 838 T=0.88 C=0.12
The Genome Aggregation Database Ashkenazi Jewish Sub 302 T=0.89 C=0.11
1000Genomes Global Study-wide 5008 T=0.814 C=0.186
1000Genomes African Sub 1322 T=0.685 C=0.315
1000Genomes East Asian Sub 1008 T=0.886 C=0.114
1000Genomes Europe Sub 1006 T=0.895 C=0.105
1000Genomes South Asian Sub 978 T=0.77 C=0.23
1000Genomes American Sub 694 T=0.89 C=0.11
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.894 C=0.106
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.887 C=0.113
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 T= C Note
GRCh38.p7 chr 11 NC_000011.10:g.94440881T= NC_000011.10:g.94440881T>C
GRCh37.p13 chr 11 NC_000011.9:g.94174047T= NC_000011.9:g.94174047T>C
MRE11 RefSeqGene (LRG_85) NG_007261.1:g.57994A= NG_007261.1:g.57994A>G
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, 43 SubSNP submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18911839 Feb 28, 2004 (120)
2 HGSV ss83251517 Dec 15, 2007 (130)
3 HUMANGENOME_JCVI ss97500516 Feb 06, 2009 (130)
4 KRIBB_YJKIM ss104799523 Feb 06, 2009 (130)
5 1000GENOMES ss114991194 Jan 25, 2009 (130)
6 ILLUMINA-UK ss119935784 Dec 01, 2009 (131)
7 ENSEMBL ss143854333 Dec 01, 2009 (131)
8 GMI ss156638909 Dec 01, 2009 (131)
9 ILLUMINA ss160053243 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss170634264 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss175238603 Jul 04, 2010 (132)
12 BUSHMAN ss203055327 Jul 04, 2010 (132)
13 1000GENOMES ss225393845 Jul 14, 2010 (132)
14 1000GENOMES ss235668489 Jul 15, 2010 (132)
15 1000GENOMES ss242277273 Jul 15, 2010 (132)
16 GMI ss281121847 May 04, 2012 (137)
17 PJP ss291101920 May 09, 2011 (134)
18 ILLUMINA ss480278470 Sep 08, 2015 (146)
19 TISHKOFF ss562747052 Apr 25, 2013 (138)
20 SSMP ss658265697 Apr 25, 2013 (138)
21 EVA-GONL ss988831303 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1077947730 Aug 21, 2014 (142)
23 1000GENOMES ss1342475990 Aug 21, 2014 (142)
24 DDI ss1426720775 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1575873402 Apr 01, 2015 (144)
26 EVA_DECODE ss1598494370 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1627201216 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1670195249 Apr 01, 2015 (144)
29 HAMMER_LAB ss1806941311 Sep 08, 2015 (146)
30 WEILL_CORNELL_DGM ss1932193658 Feb 12, 2016 (147)
31 GENOMED ss1967425671 Jul 19, 2016 (147)
32 JJLAB ss2026839009 Sep 14, 2016 (149)
33 USC_VALOUEV ss2155150652 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2184691414 Dec 20, 2016 (150)
35 TOPMED ss2348266164 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2627893126 Nov 08, 2017 (151)
37 GRF ss2699453085 Nov 08, 2017 (151)
38 GNOMAD ss2903080283 Nov 08, 2017 (151)
39 SWEGEN ss3008581717 Nov 08, 2017 (151)
40 BIOINF_KMB_FNS_UNIBA ss3027216689 Nov 08, 2017 (151)
41 TOPMED ss3153230200 Nov 08, 2017 (151)
42 CSHL ss3349734925 Nov 08, 2017 (151)
43 ILLUMINA ss3636153331 Jul 20, 2018 (151)
44 1000Genomes NC_000011.9 - 94174047 Jul 20, 2018 (151)
45 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 94174047 Jul 20, 2018 (151)
46 The Genome Aggregation Database NC_000011.9 - 94174047 Jul 20, 2018 (151)
47 Trans-Omics for Precision Medicine NC_000011.10 - 94440881 Jul 20, 2018 (151)
48 UK 10K study - Twins NC_000011.9 - 94174047 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)
rs60831050 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss83251517, ss114991194, ss119935784, ss160053243, ss170634264, ss175238603, ss203055327, ss281121847, ss291101920, ss1598494370 NC_000011.8:93813694:T= NC_000011.10:94440880:T= (self)
55039716, 30544692, 36781805, 30544692, ss225393845, ss235668489, ss242277273, ss480278470, ss562747052, ss658265697, ss988831303, ss1077947730, ss1342475990, ss1426720775, ss1575873402, ss1627201216, ss1670195249, ss1806941311, ss1932193658, ss1967425671, ss2026839009, ss2155150652, ss2348266164, ss2627893126, ss2699453085, ss2903080283, ss3008581717, ss3349734925, ss3636153331 NC_000011.9:94174046:T= NC_000011.10:94440880:T= (self)
69764912, ss2184691414, ss3027216689, ss3153230200 NC_000011.10:94440880:T= NC_000011.10:94440880:T= (self)
ss18911839 NT_008984.16:6435668:T= NC_000011.10:94440880:T= (self)
ss97500516, ss104799523, ss143854333, ss156638909 NT_167190.1:39479841:T= NC_000011.10:94440880:T= (self)
ss83251517, ss114991194, ss119935784, ss160053243, ss170634264, ss175238603, ss203055327, ss281121847, ss291101920, ss1598494370 NC_000011.8:93813694:T>C NC_000011.10:94440880:T>C (self)
55039716, 30544692, 36781805, 30544692, ss225393845, ss235668489, ss242277273, ss480278470, ss562747052, ss658265697, ss988831303, ss1077947730, ss1342475990, ss1426720775, ss1575873402, ss1627201216, ss1670195249, ss1806941311, ss1932193658, ss1967425671, ss2026839009, ss2155150652, ss2348266164, ss2627893126, ss2699453085, ss2903080283, ss3008581717, ss3349734925, ss3636153331 NC_000011.9:94174046:T>C NC_000011.10:94440880:T>C (self)
69764912, ss2184691414, ss3027216689, ss3153230200 NC_000011.10:94440880:T>C NC_000011.10:94440880:T>C (self)
ss18911839 NT_008984.16:6435668:T>C NC_000011.10:94440880:T>C (self)
ss97500516, ss104799523, ss143854333, ss156638909 NT_167190.1:39479841:T>C NC_000011.10:94440880:T>C (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 rs12360870

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