Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. 10864201

2000
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996