Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516442
rs1057516442
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 GeneticVariation CLINVAR ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin. 23585524

2013