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rs769142993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6 Breast cancer associated mutation
(G;G) 0 common in clinvar


Make rs769142993(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108331498
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs769142993
dbSNP (classic)rs769142993
ClinGenrs769142993
ebirs769142993
HLIrs769142993
Exacrs769142993
Gnomadrs769142993
Varsomers769142993
LitVarrs769142993
Maprs769142993
PheGenIrs769142993
Biobankrs769142993
1000 genomesrs769142993
hgdprs769142993
ensemblrs769142993
geneviewrs769142993
scholarrs769142993
googlers769142993
pharmgkbrs769142993
gwascentralrs769142993
openSNPrs769142993
23andMers769142993
SNPshotrs769142993
SNPdbers769142993
MSV3drs769142993
GWAS Ctlgrs769142993
Max Magnitude6
ClinVar
Risk rs769142993(C;C)
Alt rs769142993(C;C)
Reference Rs769142993(G;G)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.108202225G>C
CLNSRC
CLNACC RCV000167357.1,