Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805005
rs1805005
CUI: C0025202
Disease: melanoma
melanoma
0.060 GeneticVariation BEFREE Melanoma risk increased with presence of any of the main MC1R variants: the SOR for each variant ranged from 1.47 (95%CI: 1.17-1.84) for V60L to 2.74 (1.53-4.89) for D84E. 24917043

2015

dbSNP: rs1805005
rs1805005
CUI: C0025202
Disease: melanoma
melanoma
0.060 GeneticVariation BEFREE We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. 24170137

2014

dbSNP: rs1805005
rs1805005
CUI: C0025202
Disease: melanoma
melanoma
0.060 GeneticVariation BEFREE The summary risk of melanoma associated with individual variants ranged from OR 2.40 for R142H to 1.18 for V60L, although significant heterogeneity was evident for most variants. 21128237

2011

dbSNP: rs1805005
rs1805005
CUI: C0025202
Disease: melanoma
melanoma
0.060 GeneticVariation BEFREE Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10(-6) ≤ P ≤ .0007). 20876876

2010

dbSNP: rs1805005
rs1805005
CUI: C0025202
Disease: melanoma
melanoma
0.060 GeneticVariation BEFREE No association with melanoma or phenotype was found for p.V60L and p.V92M variants. 18366057

2008

dbSNP: rs1805005
rs1805005
CUI: C0025202
Disease: melanoma
melanoma
0.060 GeneticVariation BEFREE Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk. 16601669

2006