Skip to main page content
Accesskeys

dbSNP Short Genetic Variations

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.

rs592068

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr11:94453789 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.29015 (36433/125568, TOPMED)
C=0.2838 (8776/30922, GnomAD)
C=0.301 (1508/5008, 1000G) (+ 3 more)
C=0.241 (1081/4480, Estonian)
C=0.263 (1013/3854, ALSPAC)
C=0.256 (949/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MRE11 : 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.p12 chr 11 NC_000011.10:g.94453789T>C
GRCh37.p13 chr 11 NC_000011.9:g.94186955T>C
MRE11 RefSeqGene (LRG_85) NG_007261.1:g.45086A>G
Gene: MRE11, MRE11 homolog, double strand break repair nuclease (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MRE11 transcript variant 3 NM_001330347.1:c. N/A Intron Variant
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
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
TopMed Global Study-wide 125568 T=0.70985 C=0.29015
gnomAD - Genomes Global Study-wide 30922 T=0.7162 C=0.2838
gnomAD - Genomes European Sub 18484 T=0.7406 C=0.2594
gnomAD - Genomes African Sub 8706 T=0.671 C=0.329
gnomAD - Genomes East Asian Sub 1610 T=0.667 C=0.333
gnomAD - Genomes Other Sub 982 T=0.74 C=0.26
gnomAD - Genomes American Sub 838 T=0.72 C=0.28
gnomAD - Genomes Ashkenazi Jewish Sub 302 T=0.70 C=0.30
1000Genomes Global Study-wide 5008 T=0.699 C=0.301
1000Genomes African Sub 1322 T=0.688 C=0.312
1000Genomes East Asian Sub 1008 T=0.674 C=0.326
1000Genomes Europe Sub 1006 T=0.708 C=0.292
1000Genomes South Asian Sub 978 T=0.71 C=0.29
1000Genomes American Sub 694 T=0.73 C=0.27
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.759 C=0.241
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.737 C=0.263
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.744 C=0.256
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.p12 chr 11 NC_000011.10:g.94453789T= NC_000011.10:g.94453789T>C
GRCh37.p13 chr 11 NC_000011.9:g.94186955T= NC_000011.9:g.94186955T>C
MRE11 RefSeqGene (LRG_85) NG_007261.1:g.45086A= NG_007261.1:g.45086A>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#.

65 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss763852 Aug 11, 2000 (83)
2 KWOK ss1924116 Oct 18, 2000 (87)
3 WI_SSAHASNP ss6555612 Feb 20, 2003 (111)
4 BCM_SSAHASNP ss10684805 Jul 11, 2003 (116)
5 ABI ss39926715 Mar 13, 2006 (126)
6 AFFY ss76481877 Dec 07, 2007 (129)
7 BCMHGSC_JDW ss88705852 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss97500531 Feb 04, 2009 (130)
9 ILLUMINA-UK ss119935804 Dec 01, 2009 (131)
10 ENSEMBL ss132044478 Dec 01, 2009 (131)
11 ENSEMBL ss132737509 Dec 01, 2009 (131)
12 GMI ss156639082 Dec 01, 2009 (131)
13 ILLUMINA ss160749898 Dec 01, 2009 (131)
14 BUSHMAN ss203055467 Jul 04, 2010 (132)
15 1000GENOMES ss225393893 Jul 14, 2010 (132)
16 1000GENOMES ss235668522 Jul 15, 2010 (132)
17 1000GENOMES ss242277305 Jul 15, 2010 (132)
18 GMI ss281121878 May 04, 2012 (137)
19 PJP ss291101940 May 09, 2011 (134)
20 ILLUMINA ss481169376 May 04, 2012 (137)
21 ILLUMINA ss481191921 May 04, 2012 (137)
22 ILLUMINA ss482179540 Sep 08, 2015 (146)
23 ILLUMINA ss485379920 May 04, 2012 (137)
24 ILLUMINA ss537319500 Sep 08, 2015 (146)
25 TISHKOFF ss562747117 Apr 25, 2013 (138)
26 SSMP ss658265764 Apr 25, 2013 (138)
27 ILLUMINA ss778560316 Sep 08, 2015 (146)
28 ILLUMINA ss783135511 Sep 08, 2015 (146)
29 ILLUMINA ss784091877 Sep 08, 2015 (146)
30 ILLUMINA ss832394484 Sep 08, 2015 (146)
31 ILLUMINA ss834017186 Sep 08, 2015 (146)
32 EVA-GONL ss988831399 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1077947789 Aug 21, 2014 (142)
34 1000GENOMES ss1342476343 Aug 21, 2014 (142)
35 DDI ss1426720800 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1575873457 Apr 01, 2015 (144)
37 EVA_DECODE ss1598494449 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1627201407 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1670195440 Apr 01, 2015 (144)
40 EVA_SVP ss1713275127 Apr 01, 2015 (144)
41 ILLUMINA ss1752039286 Sep 08, 2015 (146)
42 HAMMER_LAB ss1806941351 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1932193743 Feb 12, 2016 (147)
44 JJLAB ss2026839052 Sep 14, 2016 (149)
45 USC_VALOUEV ss2155150700 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2184692179 Dec 20, 2016 (150)
47 TOPMED ss2348266893 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2627893154 Nov 08, 2017 (151)
49 ILLUMINA ss2632872307 Nov 08, 2017 (151)
50 GRF ss2699453136 Nov 08, 2017 (151)
51 GNOMAD ss2903081260 Nov 08, 2017 (151)
52 SWEGEN ss3008581840 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3027216714 Nov 08, 2017 (151)
54 TOPMED ss3153232437 Nov 08, 2017 (151)
55 CSHL ss3349734964 Nov 08, 2017 (151)
56 ILLUMINA ss3626724096 Oct 12, 2018 (152)
57 ILLUMINA ss3630887369 Oct 12, 2018 (152)
58 ILLUMINA ss3632995015 Oct 12, 2018 (152)
59 ILLUMINA ss3633694814 Oct 12, 2018 (152)
60 ILLUMINA ss3634469582 Oct 12, 2018 (152)
61 ILLUMINA ss3635386196 Oct 12, 2018 (152)
62 ILLUMINA ss3636153335 Oct 12, 2018 (152)
63 ILLUMINA ss3637137089 Oct 12, 2018 (152)
64 ILLUMINA ss3640176919 Oct 12, 2018 (152)
65 URBANLAB ss3649674570 Oct 12, 2018 (152)
66 1000Genomes NC_000011.9 - 94186955 Oct 12, 2018 (152)
67 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 94186955 Oct 12, 2018 (152)
68 Genetic variation in the Estonian population NC_000011.9 - 94186955 Oct 12, 2018 (152)
69 gnomAD - Genomes NC_000011.9 - 94186955 Oct 12, 2018 (152)
70 TopMed NC_000011.10 - 94453789 Oct 12, 2018 (152)
71 UK 10K study - Twins NC_000011.9 - 94186955 Oct 12, 2018 (152)
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)
rs386600395 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss88705852, ss119935804, ss203055467, ss281121878, ss291101940, ss481169376, ss1598494449, ss1713275127 NC_000011.8:93826602:T= NC_000011.10:94453788:T= (self)
55040080, 30544894, 21636238, 36782782, 30544894, ss225393893, ss235668522, ss242277305, ss481191921, ss482179540, ss485379920, ss537319500, ss562747117, ss658265764, ss778560316, ss783135511, ss784091877, ss832394484, ss834017186, ss988831399, ss1077947789, ss1342476343, ss1426720800, ss1575873457, ss1627201407, ss1670195440, ss1752039286, ss1806941351, ss1932193743, ss2026839052, ss2155150700, ss2348266893, ss2627893154, ss2632872307, ss2699453136, ss2903081260, ss3008581840, ss3349734964, ss3626724096, ss3630887369, ss3632995015, ss3633694814, ss3634469582, ss3635386196, ss3636153335, ss3637137089, ss3640176919 NC_000011.9:94186954:T= NC_000011.10:94453788:T= (self)
69766833, ss2184692179, ss3027216714, ss3153232437, ss3649674570 NC_000011.10:94453788:T= NC_000011.10:94453788:T= (self)
ss10684805 NT_008984.15:6448564:T= NC_000011.10:94453788:T= (self)
ss763852, ss1924116, ss6555612, ss39926715, ss76481877, ss97500531, ss132044478, ss132737509, ss156639082, ss160749898 NT_167190.1:39492749:T= NC_000011.10:94453788:T= (self)
ss88705852, ss119935804, ss203055467, ss281121878, ss291101940, ss481169376, ss1598494449, ss1713275127 NC_000011.8:93826602:T>C NC_000011.10:94453788:T>C (self)
55040080, 30544894, 21636238, 36782782, 30544894, ss225393893, ss235668522, ss242277305, ss481191921, ss482179540, ss485379920, ss537319500, ss562747117, ss658265764, ss778560316, ss783135511, ss784091877, ss832394484, ss834017186, ss988831399, ss1077947789, ss1342476343, ss1426720800, ss1575873457, ss1627201407, ss1670195440, ss1752039286, ss1806941351, ss1932193743, ss2026839052, ss2155150700, ss2348266893, ss2627893154, ss2632872307, ss2699453136, ss2903081260, ss3008581840, ss3349734964, ss3626724096, ss3630887369, ss3632995015, ss3633694814, ss3634469582, ss3635386196, ss3636153335, ss3637137089, ss3640176919 NC_000011.9:94186954:T>C NC_000011.10:94453788:T>C (self)
69766833, ss2184692179, ss3027216714, ss3153232437, ss3649674570 NC_000011.10:94453788:T>C NC_000011.10:94453788:T>C (self)
ss10684805 NT_008984.15:6448564:T>C NC_000011.10:94453788:T>C (self)
ss763852, ss1924116, ss6555612, ss39926715, ss76481877, ss97500531, ss132044478, ss132737509, ss156639082, ss160749898 NT_167190.1:39492749:T>C NC_000011.10:94453788: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 rs592068

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.post63+3f7b20b