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rs587781302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Breast cancer associated mutation
Make rs587781302(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108315863
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs587781302
dbSNP (classic)rs587781302
ClinGenrs587781302
ebirs587781302
HLIrs587781302
Exacrs587781302
Gnomadrs587781302
Varsomers587781302
LitVarrs587781302
Maprs587781302
PheGenIrs587781302
Biobankrs587781302
1000 genomesrs587781302
hgdprs587781302
ensemblrs587781302
geneviewrs587781302
scholarrs587781302
googlers587781302
pharmgkbrs587781302
gwascentralrs587781302
openSNPrs587781302
23andMers587781302
SNPshotrs587781302
SNPdbers587781302
MSV3drs587781302
GWAS Ctlgrs587781302
Max Magnitude6
ClinVar
Risk rs587781302(G;G)
Alt rs587781302(G;G)
Reference Rs587781302(A;A)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108186590A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000129013.2, RCV000449587.1,