SNP information rs1805007

Research and publications:

  9571181   Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor.

  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.

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

  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.

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

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

  19194882   Genetic determinants of hair color and risk of Parkinson's disease.

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

  19812545   Origins and functional impact of copy number variation in the human genome.

  19884608   Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations.

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

  20158590   Predicting phenotype from genotype: normal pigmentation.

  20393453   Interaction of FKBP5 with childhood adversity on risk for post-traumatic stress disorder.

  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.

  20691402   Whole-genome genetic diversity in a sample of Australians with deep Aboriginal ancestry.

  20876667   Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

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

  21445957   Association of CHRNA4 polymorphisms with smoking behavior in two populations.

  21700618   Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.

  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.

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

  23393597   Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study.

  23927501   Why it is hard to find genes associated with social science traits: theoretical and empirical considerations.

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

  24274136   Biobanking across the phenome - at the center of chronic disease research.

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

  24473444   The α-endomannosidase gene (MANEA) is associated with panic disorder and social anxiety disorder.

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

  24924479   Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children.

  25159867   Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

  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.

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

  26848990   Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma.

  27047535   Global Intersection of Long Non-Coding RNAs with Processed and Unprocessed Pseudogenes in the Human Genome.

  27424798   Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.

  27459457   Epidemiological assessment of cutaneous sequelae in nurses' health studies.

  27539887   Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

  27716216   The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

  28081215   Genome-Wide Association Studies of Multiple Keratinocyte Cancers.

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

  29054604   Susceptibility Loci-Associated Cutaneous Squamous Cell Carcinoma Invasiveness.

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

  29771307   Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.

  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.

  32121219   Environmental UVR Levels and Skin Pigmentation Gene Variants Associated with Folate and Homocysteine Levels in an Elderly Cohort.

  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.