Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201675
rs786201675
ATM
C 0.700 CausalMutation CLINVAR Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 27528516

2016
dbSNP: rs786201675
rs786201675
ATM
C 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs786201675
rs786201675
ATM
C 0.700 CausalMutation CLINVAR ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele. 21933854

2012
dbSNP: rs786201675
rs786201675
ATM
C 0.700 CausalMutation CLINVAR Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. 22071889

2012
dbSNP: rs786201675
rs786201675
ATM
C 0.700 CausalMutation CLINVAR Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 21665257

2011
dbSNP: rs786201675
rs786201675
ATM
C 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs786201675
rs786201675
ATM
C 0.700 CausalMutation CLINVAR ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998