Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203030
rs786203030
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009
dbSNP: rs786203030
rs786203030
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347

2006
dbSNP: rs786203030
rs786203030
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs786203030
rs786203030
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996