Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.730 GeneticVariation GWASDB Identification of a melanoma susceptibility locus and somatic mutation in TET2. 24980573 2014
melanoma
CUI: C0025202
Disease: melanoma
0.730 GeneticVariation BEFREE The association with melanoma of the TYR variant p.Arg402Gln was also statistically significant (OR: 1.50; 95% CI: 1.11-2.04; p-value=0.0089). 22464347 2012
melanoma
CUI: C0025202
Disease: melanoma
0.730 GeneticVariation BEFREE The homozygous p.R402Q variant was significantly associated with SK risk (P value=0.008; OR=1.57), and was mostly associated with multiple CM risk (P value=0.021; OR=2.50) and familial CM risk (P value=0.022; OR=2.16). 21906913 2011
melanoma
CUI: C0025202
Disease: melanoma
0.730 GeneticVariation BEFREE The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). 18488027 2008