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rs587779826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779826(C;C)
Make rs587779826(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position108267344
GeneATM
is asnp
is mentioned by
dbSNPrs587779826
dbSNP (classic)rs587779826
ClinGenrs587779826
ebirs587779826
HLIrs587779826
Exacrs587779826
Gnomadrs587779826
Varsomers587779826
LitVarrs587779826
Maprs587779826
PheGenIrs587779826
Biobankrs587779826
1000 genomesrs587779826
hgdprs587779826
ensemblrs587779826
geneviewrs587779826
scholarrs587779826
googlers587779826
pharmgkbrs587779826
gwascentralrs587779826
openSNPrs587779826
23andMers587779826
SNPshotrs587779826
SNPdbers587779826
MSV3drs587779826
GWAS Ctlgrs587779826
Max Magnitude0

Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]

ClinVar
Risk rs587779826(C;C)
Alt rs587779826(C;C)
Reference Rs587779826(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108138071T>C
CLNSRC
CLNACC RCV000115162.8, RCV000211986.2, RCV000477335.1,