rs1805006, MC1R

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hair Color
CUI: C0018498
Disease: Hair Color
0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
Hair Color
CUI: C0018498
Disease: Hair Color
0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
0.700 SusceptibilityMutation CLINVAR
melanoma
CUI: C0025202
Disease: melanoma
0.040 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
melanoma
CUI: C0025202
Disease: melanoma
0.040 GeneticVariation BEFREE In a multivariate model, however, only the D84E polymorphism influenced melanoma risk independently of the risk factors fair skin type, high nevus count and high age (P = 0.047). 17072629 2007
melanoma
CUI: C0025202
Disease: melanoma
0.040 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
melanoma
CUI: C0025202
Disease: melanoma
0.040 GeneticVariation BEFREE The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. 8894704 1996
Cutaneous Melanoma
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
Cutaneous Melanoma
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
Skin carcinoma
CUI: C0699893
Disease: Skin carcinoma
0.010 GeneticVariation BEFREE All of the investigated variants showed positive associations with NMSC, with consistent significant results obtained for V60L, D84E, V92M, R151C, R160W, R163Q and D294H: SOR (95%CI) ranged from 1.42 (1.19-1.70) for V60L to 2.66 (1.06-6.65) for D84E variant. 26103569 2015
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
0.010 GeneticVariation BEFREE In a multivariate model, however, only the D84E polymorphism influenced melanoma risk independently of the risk factors fair skin type, high nevus count and high age (P = 0.047). 17072629 2007
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
0.010 GeneticVariation BEFREE In a multivariate model, however, only the D84E polymorphism influenced melanoma risk independently of the risk factors fair skin type, high nevus count and high age (P = 0.047). 17072629 2007
Nevus
CUI: C0027960
Disease: Nevus
0.010 GeneticVariation BEFREE In a multivariate model, however, only the D84E polymorphism influenced melanoma risk independently of the risk factors fair skin type, high nevus count and high age (P = 0.047). 17072629 2007