MC1R, melanocortin 1 receptor, 4157

N. diseases: 183; N. variants: 33
Disease: Cutaneous Melanoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805006
rs1805006
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0151779
Disease:
Cutaneous Melanoma 		0.020 GeneticVariation BEFREE Although our findings need to be confirmed by independent and larger studies we have described for the first time the association of D84E variant of the alpha-MSH receptor 1 gene as an independent risk factor for an earlier onset of cutaneous malignant melanoma. 18657399 2008
dbSNP: rs1805006
rs1805006
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0151779
Disease:
Cutaneous Melanoma 		0.020 GeneticVariation BEFREE We conclude that numerous melanocortin 1 receptor variants predispose to cutaneous melanoma and that possibly the Asp84Glu variant confers the highest risk. 11511307 2001