rs587779833, ATM

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038 2017
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348 1999
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348 1999
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348 1999
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR