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rs730881391

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730881391(C;C)
Make rs730881391(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108289759
GeneATM
is asnp
is mentioned by
dbSNPrs730881391
ebirs730881391
HLIrs730881391
Exacrs730881391
Varsomers730881391
Maprs730881391
PheGenIrs730881391
hapmaprs730881391
1000 genomesrs730881391
hgdprs730881391
ensemblrs730881391
gopubmedrs730881391
geneviewrs730881391
scholarrs730881391
googlers730881391
pharmgkbrs730881391
gwascentralrs730881391
openSNPrs730881391
23andMers730881391
23andMe allrs730881391
SNP Nexus

SNPshotrs730881391
SNPdbers730881391
MSV3drs730881391
GWAS Ctlgrs730881391
Max Magnitude0
ClinVar
Risk rs730881391(C;C)
Alt rs730881391(C;C)
Reference rs730881391(T;T)
Significance Probable-Pathogenic
Disease not provided Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene ATM
CLNDBN not provided Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108160486T>C
CLNSRC
CLNACC RCV000159765.2, RCV000206187.2, RCV000220574.1,