SNP information rs1805008

Research and publications:

  9665397   Melanocortin 1 receptor variants in an Irish population.

  12876664   MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

  15994880   Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans.

  17616515   Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.

  17952075   Genetic determinants of hair, eye and skin pigmentation in Europeans.

  17999355   A genomewide association study of skin pigmentation in a South Asian population.

  18392143   Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.

  19320745   Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.

  19710684   Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

  20042077   Genetic determinants of hair and eye colours in the Scottish and Danish populations.

  20158590   Predicting phenotype from genotype: normal pigmentation.

  20546537   Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

  20585627   Web-based, participant-driven studies yield novel genetic associations for common traits.

  20670983   The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.

  21197618   Model-based prediction of human hair color using DNA variants.

  21829225   People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population.

  21926416   Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

  22140526   Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example.

  24086514   Association of polymorphisms in pharmacogenetic candidate genes (OPRD1, GAL, ABCB1, OPRM1) with opioid dependence in European population: a case-control study.

  24439955   Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease.

  24809478   Implications of the admixture process in skin color molecular assessment.

  25631192   The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  25945350   Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.

  26389780   Reply.

  26389967   Is the MC1R p.R160W variant associated with Parkinson's disease?

  26547235   Crowdsourced direct-to-consumer genomic analysis of a family quartet.

  28242083   Association of five SNPs with human hair colour in the Polish population.

  29518100   Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels.

  30657907   A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

  31612033   The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

  35176104   Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.