Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 GeneticVariation CLINVAR ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314

1998
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		C 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 GeneticVariation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 GeneticVariation CLINVAR Analysis of the ATM protein in wild-type and ataxia telangiectasia cells. 9000145

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 GeneticVariation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 GeneticVariation CLINVAR