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SNP information rs885479

RS885479

Normal allele: GG

The melanocortin 1 receptor (MC1R) gene variant is associated with an increased risk of developing melanoma of the skin, which is largely independent of skin type and hair colour.

Polymorphism rs885479 is related to topics like this:

Melanoma genes

The incidence of malignant melanoma (MM) is rising sharply, making it one of the most aggressive...


Research and publications:

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

  11511307   Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

  17434924   MC1R: three novel variants identified in a malignant melanoma association study in the Spanish 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.

  18366057   MC1R variants, melanoma and red hair color phenotype: a meta-analysis.

  19503611   The role of geography in human adaptation.

  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.

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

  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.

  23110848   Human pigmentation genes under environmental selection.

  23118974   Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.

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

  23771755   Improved eye- and skin-color prediction based on 8 SNPs.

  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.

  26690364   Genetic differences among ethnic groups.

  27488084   Melanocortin-1 Receptor Polymorphisms and the Risk of Complicated Sepsis After Trauma: A Candidate Gene Association Study.

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

  31488411   MC1R Variation in a New Mexico Population.

  31834199   Detangling red hair from pain: phenotype-specific contributions from different genetic variants in melanocortin-1 receptor.

  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.

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

Genetic testing for cancer

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Colorectal cancer genes

One of the prevalent cancer syndromes that can be inherited is colon cancer. Chromosome 2 contains...

Gastrointestinal tract cancer

The occurrence of gastrointestinal (GI) tract cancers caused by genetic mutations is widespread...

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