ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1003623
rs1003623
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE For the rs1003623, the T allele was associated with an increased breast cancer risk among postmenopausal women with odds ratios (ORs) of 1.4 (95% Confidence Intervals (CIs) = 1.0-1.9) for the CT and 1.6 (95% CIs = 1.0-2.4) for the TT, (P for trend = 0.03). 17431766 2007
dbSNP: rs1003623
rs1003623
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE For the rs1003623, the T allele was associated with an increased breast cancer risk among postmenopausal women with odds ratios (ORs) of 1.4 (95% Confidence Intervals (CIs) = 1.0-1.9) for the CT and 1.6 (95% CIs = 1.0-2.4) for the TT, (P for trend = 0.03). 17431766 2007
dbSNP: rs1018140779
rs1018140779
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		G 0.700 GeneticVariation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571 2013
dbSNP: rs1025339570
rs1025339570
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1049900772
rs1049900772
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057516229
rs1057516229
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516235
rs1057516235
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516238
rs1057516238
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516238
rs1057516238
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 GeneticVariation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872 2014
dbSNP: rs1057516238
rs1057516238
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 GeneticVariation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571 2013
dbSNP: rs1057516250
rs1057516250
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		GA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516282
rs1057516282
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		AG 0.700 GeneticVariation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559 2003
dbSNP: rs1057516282
rs1057516282
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		AG 0.700 CausalMutation CLINVAR The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM. 16603769 2006
dbSNP: rs1057516282
rs1057516282
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		AG 0.700 CausalMutation CLINVAR Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting. 25480502 2015
dbSNP: rs1057516282
rs1057516282
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		AG 0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559 2003
dbSNP: rs1057516301
rs1057516301
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516311
rs1057516311
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 GeneticVariation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682 2009
dbSNP: rs1057516358
rs1057516358
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516393
rs1057516393
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		CT 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516393
rs1057516393
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs1057516442
rs1057516442
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 GeneticVariation CLINVAR ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin. 23585524 2013
dbSNP: rs1057516446
rs1057516446
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516525
rs1057516525
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516537
rs1057516537
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 GeneticVariation CLINVAR Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. 23632773 2013
dbSNP: rs1057516540
rs1057516540
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		C 0.700 GeneticVariation CLINVAR