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rs587781558

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781558(A;A)
Make rs587781558(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108271147
GeneATM
is asnp
is mentioned by
dbSNPrs587781558
ebirs587781558
HLIrs587781558
Exacrs587781558
Varsomers587781558
Maprs587781558
PheGenIrs587781558
hapmaprs587781558
1000 genomesrs587781558
hgdprs587781558
ensemblrs587781558
gopubmedrs587781558
geneviewrs587781558
scholarrs587781558
googlers587781558
pharmgkbrs587781558
gwascentralrs587781558
openSNPrs587781558
23andMers587781558
23andMe allrs587781558
SNP Nexus

SNPshotrs587781558
SNPdbers587781558
MSV3drs587781558
GWAS Ctlgrs587781558
Max Magnitude0
ClinVar
Risk rs587781558(A,C,T;A,C,T)
Alt rs587781558(A,C,T;A,C,T)
Reference rs587781558(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108141874G>A; NC_000011.9:g.108141874G>C; NC_000011.9:g.108141874G>T
CLNSRC
CLNACC RCV000129576.2, RCV000169059.1, RCV000215085.1, RCV000167947.1, RCV000217319.1, RCV000236109.1, RCV000130866.2, RCV000233536.1,