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rs137852763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852763(C;C)
Make rs137852763(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position94476318
GeneMRE11A
is asnp
is mentioned by
dbSNPrs137852763
dbSNP (classic)rs137852763
ClinGenrs137852763
ebirs137852763
HLIrs137852763
Exacrs137852763
Gnomadrs137852763
Varsomers137852763
LitVarrs137852763
Maprs137852763
PheGenIrs137852763
Biobankrs137852763
1000 genomesrs137852763
hgdprs137852763
ensemblrs137852763
geneviewrs137852763
scholarrs137852763
googlers137852763
pharmgkbrs137852763
gwascentralrs137852763
openSNPrs137852763
23andMers137852763
SNPshotrs137852763
SNPdbers137852763
MSV3drs137852763
GWAS Ctlgrs137852763
Max Magnitude0
OMIM600814
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852763(C;C)
Alt rs137852763(C;C)
Reference Rs137852763(G;G)
Significance Pathogenic
Disease Ataxia-telangiectasia-like disorder 1
Variation info
Gene MRE11A
CLNDBN Ataxia-telangiectasia-like disorder 1
Reversed 1
HGVS NC_000011.9:g.94209484C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009331.4,