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rs730881357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Breast cancer associated mutation
Make rs730881357(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108272720
GeneATM
is asnp
is mentioned by
dbSNPrs730881357
dbSNP (classic)rs730881357
ClinGenrs730881357
ebirs730881357
HLIrs730881357
Exacrs730881357
Gnomadrs730881357
Varsomers730881357
LitVarrs730881357
Maprs730881357
PheGenIrs730881357
Biobankrs730881357
1000 genomesrs730881357
hgdprs730881357
ensemblrs730881357
geneviewrs730881357
scholarrs730881357
googlers730881357
pharmgkbrs730881357
gwascentralrs730881357
openSNPrs730881357
23andMers730881357
SNPshotrs730881357
SNPdbers730881357
MSV3drs730881357
GWAS Ctlgrs730881357
Max Magnitude6
ClinVar
Risk rs730881357(G;G)
Alt rs730881357(G;G)
Reference Rs730881357(A;A)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Reversed 0
HGVS NC_000011.9:g.108143447A>G
CLNSRC
CLNACC RCV000159707.5, RCV000206276.3, RCV000211994.1,