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rs587780639

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780639(A;A)
Make rs587780639(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108332037
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs587780639
ebirs587780639
HLIrs587780639
Exacrs587780639
Varsomers587780639
Maprs587780639
PheGenIrs587780639
hapmaprs587780639
1000 genomesrs587780639
hgdprs587780639
ensemblrs587780639
gopubmedrs587780639
geneviewrs587780639
scholarrs587780639
googlers587780639
pharmgkbrs587780639
gwascentralrs587780639
openSNPrs587780639
23andMers587780639
23andMe allrs587780639
SNP Nexus

SNPshotrs587780639
SNPdbers587780639
MSV3drs587780639
GWAS Ctlgrs587780639
Max Magnitude0
ClinVar
Risk rs587780639(A,T;A,T)
Alt rs587780639(A,T;A,T)
Reference rs587780639(G;G)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108202764G>A; NC_000011.9:g.108202764G>T
CLNSRC
CLNACC RCV000122884.1, RCV000159654.2, RCV000217179.1, RCV000227156.1,