Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GC 0.700 GeneticVariation CLINVAR Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. 23566627

2013
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GC 0.700 GeneticVariation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089

2012
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GC 0.700 GeneticVariation CLINVAR Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. 15054841

2004
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GC 0.700 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GC 0.700 GeneticVariation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394

2000
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GC 0.700 GeneticVariation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GC 0.700 GeneticVariation CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587

1998