Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571

2013
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571

2013
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046

2011
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046

2011
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
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
A 0.700 CausalMutation CLINVAR Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. 21445571

2011
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046

2011
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
T 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
T 0.700 CausalMutation CLINVAR Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. 21445571

2011
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
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
A 0.700 CausalMutation CLINVAR Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia. 11298136

2001
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia. 11298136

2001
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
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
T 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
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
A 0.700 GeneticVariation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

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

1999
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
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
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