rs730881336, ATM

N. diseases: 3
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 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021 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
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405 2005
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405 2005
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876 1998
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876 1998