rs587780612, ATM

N. diseases: 2
Disease: Ataxia Telangiectasia ×
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 GeneticVariation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089 2012
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089 2012
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198 2011
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR ATM gene variants in patients with idiopathic perifoveal telangiectasia. 18502988 2008
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR ATM gene variants in patients with idiopathic perifoveal telangiectasia. 18502988 2008
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559 2003
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559 2003
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
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 10425038 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
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