rs2228479, MC1R

N. diseases: 11
Disease: melanoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.040 GeneticVariation BEFREE Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. 22621339 2013
melanoma
CUI: C0025202
Disease: melanoma
0.040 GeneticVariation BEFREE We also observed reduced historic linkage disequilibrium between the variants V92M and T314T in the gene in German melanoma cases. 19585506 2009
melanoma
CUI: C0025202
Disease: melanoma
0.040 GeneticVariation BEFREE No association with melanoma or phenotype was found for p.V60L and p.V92M variants. 18366057 2008
melanoma
CUI: C0025202
Disease: melanoma
0.040 GeneticVariation BEFREE The Val60Leu, Val92Met, and Arg163Gln variant alleles, however, were only weakly or not associated with fair skin type and/or red hair, which further illustrates the finding that skin type, hair color, and melanoma are independent outcomes of the presence of melanocortin 1 receptor gene variants. 11511307 2001