Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773962041
rs773962041
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation BEFREE The D294H heterozygous variant was observed in 0.3% of individuals in the control group and in 1.1% of the patients in the melanoma group. 27755135

2018

dbSNP: rs773962041
rs773962041
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation BEFREE When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type. 19755124

2009