Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2228479
rs2228479
MC1R
CUI: C0025202
Disease: melanoma
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
dbSNP: rs2228479
rs2228479
MC1R
CUI: C0025202
Disease: melanoma
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
dbSNP: rs2228479
rs2228479
MC1R
CUI: C0025202
Disease: melanoma
melanoma 		0.040 GeneticVariation BEFREE No association with melanoma or phenotype was found for p.V60L and p.V92M variants. 18366057

2008
dbSNP: rs2228479
rs2228479
MC1R
CUI: C0025202
Disease: melanoma
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