rs786202195, 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
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.010 GeneticVariation BEFREE A previous study of 4 A-T patients identified 2 rare homozygous missense mutations residing on the same allele of the ATM gene: c.1514T>C and c.1547T>C, which were shown to decrease ATM levels and increase T-cell acute lymphoblastic leukemia predisposition. 30124550 2018