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 Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia. 11298136

2001
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 GeneticVariation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 GeneticVariation CLINVAR

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 		A 0.700 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 GeneticVariation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046

2011
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 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 		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 		A 0.700 GeneticVariation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
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 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046

2011
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		T 0.700 CausalMutation 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 		A 0.700 CausalMutation 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 		T 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		A 0.700 CausalMutation CLINVAR Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198

2011
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 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
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