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rs376170600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 Breast cancer associated mutation
Make rs376170600(C;T)
Make rs376170600(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position108248977
GeneATM
is asnp
is mentioned by
dbSNPrs376170600
dbSNP (classic)rs376170600
ClinGenrs376170600
ebirs376170600
HLIrs376170600
Exacrs376170600
Gnomadrs376170600
Varsomers376170600
LitVarrs376170600
Maprs376170600
PheGenIrs376170600
Biobankrs376170600
1000 genomesrs376170600
hgdprs376170600
ensemblrs376170600
geneviewrs376170600
scholarrs376170600
googlers376170600
pharmgkbrs376170600
gwascentralrs376170600
openSNPrs376170600
23andMers376170600
SNPshotrs376170600
SNPdbers376170600
MSV3drs376170600
GWAS Ctlgrs376170600
Max Magnitude6
ClinVar
Risk rs376170600(G;G) rs376170600(T;T)
Alt rs376170600(G;G) rs376170600(T;T)
Reference Rs376170600(C;C)
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.108119704C>G; NC_000011.9:g.108119704C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000131436.3, RCV000228285.1, RCV000236856.1, RCV000166267.1,