SNP information rs1805005

Research and publications:

  9302268   Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.

  10631149   Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

  16595073   Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations

  16601669   Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.

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

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

  19585506   Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.

  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.

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

  21128237   Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden.

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

  22277159   Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.

  22629401   Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.

  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.

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

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

  34168679   Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.

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