rs1057518965, ATM

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 CausalMutation CLINVAR
Conjunctival telangiectasis
CUI: C0239105
Disease: Conjunctival telangiectasis
0.700 CausalMutation CLINVAR
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
0.700 CausalMutation CLINVAR
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
0.700 CausalMutation CLINVAR
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR