Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516537
rs1057516537
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
T 0.700 GeneticVariation CLINVAR Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. 23632773

2013