Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516541
rs1057516541
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		TA 0.700 GeneticVariation CLINVAR Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. 21778326

2011
dbSNP: rs1057516541
rs1057516541
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		TA 0.700 CausalMutation CLINVAR