MC1R, melanocortin 1 receptor, 4157

N. diseases: 183; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805007
rs1805007
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0151779
Disease:
Cutaneous Melanoma
0.030 GeneticVariation BEFREE The rs1042522 was also selected as a CM risk factor in multivariate models, suggesting an effect that is independent from and complementary to that of rs1805007. 31612033 2019
dbSNP: rs1805007
rs1805007
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0151779
Disease:
Cutaneous Melanoma
0.030 GeneticVariation BEFREE Polymorphisms rs 1805007 (R151C), rs 1805008 (R160W), and rs 1805009 (D294H) were detected in 174 DNA samples from patients with histologically proved diagnosis of cutaneous melanoma and in 200 samples from healthy individuals. 30086893 2018
dbSNP: rs1805007
rs1805007
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0151779
Disease:
Cutaneous Melanoma
0.030 GeneticVariation BEFREE Especially, variant R151C significantly increased the risk of both MM and BCC. 18637131 2009