Have questions? Visit https://www.reddit.com/r/SNPedia

rs780619951

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs780619951(C;T)
Make rs780619951(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108259022
GeneATM
is asnp
is mentioned by
dbSNPrs780619951
ebirs780619951
HLIrs780619951
Exacrs780619951
Varsomers780619951
Maprs780619951
PheGenIrs780619951
hapmaprs780619951
1000 genomesrs780619951
hgdprs780619951
ensemblrs780619951
gopubmedrs780619951
geneviewrs780619951
scholarrs780619951
googlers780619951
pharmgkbrs780619951
gwascentralrs780619951
openSNPrs780619951
23andMers780619951
23andMe allrs780619951
SNP Nexus

SNPshotrs780619951
SNPdbers780619951
MSV3drs780619951
GWAS Ctlgrs780619951
Max Magnitude0
ClinVar
Risk rs780619951(T;T)
Alt rs780619951(T;T)
Reference rs780619951(C;C)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108129749C>T
CLNSRC
CLNACC RCV000199790.3, RCV000221009.1,