Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		GA 0.700 CausalMutation CLINVAR Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. 22649200

2012
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		GA 0.700 CausalMutation CLINVAR Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. 21778326

2011
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		GA 0.700 CausalMutation CLINVAR Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients. 18573109

2008
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		GA 0.700 CausalMutation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		GA 0.700 CausalMutation CLINVAR Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation. 12552566

2003