Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312755
rs869312755
ATM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312754
rs869312754
ATM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs786203059
rs786203059
ATM ; C11orf65
C 0.700 GeneticVariation CLINVAR

dbSNP: rs786202826
rs786202826
ATM ; C11orf65
G 0.700 GeneticVariation CLINVAR

dbSNP: rs786202743
rs786202743
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs786202743
rs786202743
ATM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs780619951
rs780619951
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs777741666
rs777741666
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR

dbSNP: rs770641163
rs770641163
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR

dbSNP: rs769142993
rs769142993
ATM ; C11orf65
0.010 GeneticVariation BEFREE Interestingly, results from functional analysis of the breast cancer-associated ATM mutations indicated that cancer susceptibility is not restricted to mutations with dominant-negative effect on kinase activity, displayed only by 7570G>C, whereas 8734A>G showed only a partial defect in the phosphorylation of ATM substrates, and 6903insA seemed to be a null allele. 17166884

2007
dbSNP: rs768362387
rs768362387
ATM
A 0.700 CausalMutation CLINVAR

dbSNP: rs758081262
rs758081262
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs749036865
rs749036865
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR

dbSNP: rs730881369
rs730881369
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs730881346
rs730881346
ATM
G 0.700 GeneticVariation CLINVAR

dbSNP: rs730881336
rs730881336
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs730881333
rs730881333
ATM
0.010 GeneticVariation BEFREE We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). 27595995

2016
dbSNP: rs664677
rs664677
ATM
0.010 GeneticVariation BEFREE ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast cancer risk. 22203481

2012
dbSNP: rs664143
rs664143
ATM ; C11orf65
0.010 GeneticVariation BEFREE In the subgroup analysis by cancer type, we observed that the ATM rs664143 polymorphism was significantly associated with lung cancer risk (GA vs. GG: OR = 1.48, 95% CI 1.18-1.85, AA vs. GG: OR = 1.51, 95% CI 1.18-1.93) and rs664677 polymorphism was associated with decreased lung cancr risk and increased breast cancer risk (for lung cancer: TC vs. TT: OR = 0.76, 95% CI 0.62-0.92, CC vs. TT: OR = 0.80, 95% CI 0.64-0.99 and for breast cancer: TC vs. TT: OR = 1.42, 95% CI 1.17-1.73, CC vs. TT: OR = 1.51, 95% CI 1.21-1.87). 22203481

2012
dbSNP: rs624366
rs624366
ATM
0.010 GeneticVariation BEFREE In this hospital-based matched case-control study, associations of seven ATM single nucleotide polymorphisms (rs600931, rs652311, rs227060, rs227292, rs624366 and rs189037) with breast cancer risk in a Taiwanese population were investigated. 21187516

2010
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587781722
rs587781722
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR

dbSNP: rs587781653
rs587781653
ATM
A 0.700 CausalMutation CLINVAR

dbSNP: rs587781558
rs587781558
ATM
A 0.700 CausalMutation CLINVAR