Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805007
rs1805007
0.800 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
0.800 GeneticVariation BEFREE Some features characteristic of the population were found, i.e. melanoma is mostly associated with R160W or R151C while variant D294H is extremely rare; simultaneous carriage of any two investigated variants is also strongly associated with melanoma; R151C is associated with ulceration and consequently the disease course is more aggressive, etc. 30086893

2018

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE Carriers of the mutant R151C allele should exercise caution in terms of exposure to the sun to avoid the risk of melanoma development. 27755135

2018

dbSNP: rs1805007
rs1805007
T 0.800 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE Current study confirms the increased MM risk for R151C carriers. 24170137

2014

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE The highest risk of melanoma was associated with the Arg151Cys variant (odds ratio (OR) 4.47, 95% confidence interval (CI) 2.19-9.14, P<0.001). 23522749

2013

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. 22621339

2013

dbSNP: rs1805007
rs1805007
0.800 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: rs1805007
rs1805007
0.800 GeneticVariation BEFREE Using age and sex-adjusted logistic regression, one specific variant, R151C, conferred significantly increased melanoma risk among Ashkenazim (OR=2.6, 95% CI: 1.3-5.3; p=0.05 after Bonferroni correction). 19269164

2009

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia. 19799798

2009

dbSNP: rs1805007
rs1805007
0.800 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

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease. 17492760

2007

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE We found an association of the MC1R D84E and R151C polymorphisms with melanoma (odds ratios for carriage of the rare allele 4.96, 95% CI [1.06-23.13], P = 0.032, and 1.69, 95% CI [1.12-2.55], P = 0.013, respectively). 17072629

2007

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk. 16601669

2006

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. 11179997

2001

dbSNP: rs1805007
rs1805007
0.800 GeneticVariation BEFREE These findings suggest that the R151C</span> variant may be involve</span>d in melanoma tumorigenesis in a dual manner, both as a determinant of fair skin and as a component in an independent additional pathway. 11500806

2001

dbSNP: rs1805008
rs1805008
0.090 GeneticVariation BEFREE A strong association between CM and red hair was identified for rs1805007, and rs1805008 in the <i>MC1R</i> gene was mainly associated with red hair. 31612033

2019

dbSNP: rs1805008
rs1805008
0.090 GeneticVariation BEFREE Some features characteristic of the population were found, i.e. melanoma is mostly associated with R160W or R151C while variant D294H is extremely rare; simultaneous carriage of any two investigated variants is also strongly associated with melanoma; R151C is associated with ulceration and consequently the disease course is more aggressive, etc. 30086893

2018

dbSNP: rs1805008
rs1805008
0.090 GeneticVariation BEFREE The present study aimed to evaluate the distribution of melanocortin 1 receptor gene variants R151C, R160W, and D294H within the Russian population of Eastern Siberia and its association with melanoma development. 27755135

2018

dbSNP: rs1805008
rs1805008
0.090 GeneticVariation BEFREE Recently, the p.R160W variant in the melanocortin 1 receptor gene (MC1R, OMIM 155555), a risk factor for MM, has been identified to be associated with PD in Spanish population. 26628245

2016

dbSNP: rs1805008
rs1805008
0.090 GeneticVariation BEFREE The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. 25631192

2015

dbSNP: rs1805008
rs1805008
0.090 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: rs1805008
rs1805008
0.090 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

dbSNP: rs1805008
rs1805008
0.090 GeneticVariation BEFREE Six variants, all non-synonymous changes, were individually associated with MM risk (Arg160Trp, Asp294His, Val60Leu, Val92Met, Ile155Thr and Arg163Gln). 17434924

2007

dbSNP: rs1805008
rs1805008
0.090 GeneticVariation BEFREE MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. 11179997

2001