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rs137852760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852760(A;G)
Make rs137852760(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position94479726
GeneMRE11A
is asnp
is mentioned by
dbSNPrs137852760
dbSNP (classic)rs137852760
ClinGenrs137852760
ebirs137852760
HLIrs137852760
Exacrs137852760
Gnomadrs137852760
Varsomers137852760
LitVarrs137852760
Maprs137852760
PheGenIrs137852760
Biobankrs137852760
1000 genomesrs137852760
hgdprs137852760
ensemblrs137852760
geneviewrs137852760
scholarrs137852760
googlers137852760
pharmgkbrs137852760
gwascentralrs137852760
openSNPrs137852760
23andMers137852760
SNPshotrs137852760
SNPdbers137852760
MSV3drs137852760
GWAS Ctlgrs137852760
Max Magnitude0
OMIM600814
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852760(G;G)
Alt rs137852760(G;G)
Reference Rs137852760(A;A)
Significance Pathogenic
Disease Ataxia-telangiectasia-like disorder 1 Hereditary cancer-predisposing syndrome not specified
Variation info
Gene MRE11A
CLNDBN Ataxia-telangiectasia-like disorder 1 Hereditary cancer-predisposing syndrome not specified
Reversed 1
HGVS NC_000011.9:g.94212892T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009328.2, RCV000115917.6, RCV000212557.1,