Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
0.710 GeneticVariation BEFREE The sibling with ataxia telangiectasia revealed a homozygous p.Arg2993Stop (c.8977C>T) null mutation in the ATM gene. 30339652

2019