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rs557012154

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs557012154(C;T)
Make rs557012154(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108244927
GeneATM
is asnp
is mentioned by
dbSNPrs557012154
ebirs557012154
HLIrs557012154
Exacrs557012154
Varsomers557012154
Maprs557012154
PheGenIrs557012154
hapmaprs557012154
1000 genomesrs557012154
hgdprs557012154
ensemblrs557012154
gopubmedrs557012154
geneviewrs557012154
scholarrs557012154
googlers557012154
pharmgkbrs557012154
gwascentralrs557012154
openSNPrs557012154
23andMers557012154
23andMe allrs557012154
SNP Nexus

SNPshotrs557012154
SNPdbers557012154
MSV3drs557012154
GWAS Ctlgrs557012154
Max Magnitude0
ClinVar
Risk rs557012154(T;T)
Alt rs557012154(T;T)
Reference rs557012154(C;C)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108115654C>T
CLNSRC
CLNACC RCV000169336.1, RCV000222842.1,