ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: melanoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542 2017
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.810 GeneticVariation BEFREE Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study. 23537197 2013
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.810 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.810 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
dbSNP: rs587779826
rs587779826
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1800054
rs1800054
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.010 GeneticVariation BEFREE Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (95% CI, 0.9 to 1.5) for cancer overall, 0.8 (95% CI, 0.3 to 2.0) for breast cancer, 4.8 (95% CI, 2.2 to 11) for melanoma, 2.3 (95% CI, 1.1 to 5.0) for prostate cancer, and 3.4 (95% CI, 1.1 to 11) for cancer of the oral cavity/pharynx. 18565893 2008