SNP information rs2228479

Research and publications:

  7581459   Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.

  8944016   Val92Met variant of the melanocyte stimulating hormone receptor gene.

  8990005   Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects.

  11487574   The melanocortin-1-receptor gene is the major freckle gene.

  16463023   Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.

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

  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.

  21052032   Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response.

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

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

  23744330   [Association study of MC1R gene polymorphisms with freckles in Chinese Han population from Chengdu].

  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.

  26482799   MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region.

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

  26826707   The Effects of Sequence Variation on Genome-wide NRF2 Binding--New Target Genes and Regulatory SNPs.

  27084066   MC1R variants in Han Chinese patients with sporadic Parkinson's disease.

  28059796   A common variant of the MC1R gene (p.V92M) is associated with the risk of Alzheimer's disease.

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

  32835660   GWAS Analysis of 17,019 Korean Women Identifies the Variants Associated with Facial Pigmented Spots.

  33907405   Association Analysis of Polymorphisms in BIN1, MC1R, STARD6 and PVRL2 with Mild Cognitive Impairment in Elderly Carrying APOE ε4 Allele.

  34698109   MC1R Is a Prognostic Marker and Its Expression Is Correlated with MSI in Colorectal Cancer.

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

  35188998   MC1R diversity and its role in skin pigmentation variation in West Maharashtra, India.

  35955479   Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression.