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This SNP influences skin pigmentation. The allele, A111T, rs1426654(A), indicates light-skinned european ancestry. [PMID 16847698, PMID 16357253]
It appears as if this SNP is a relatively new one in human evolution; one estimate [PMID 17182896] is that the rs1426654(A) allele, in other words, light skin pigmentation, spread through the European population around 6,000 - 12,000 years ago. Prior to that, "European ancestors" were most likely relatively brown-skinned. Another study ([PMID 24048645]) has concluded that almost individuals carrying the A111T variant can trace ancestry back to a single person who most likely lived at least 10,000 years ago.
The 3 SNPs are:
|CLNDBN||Skin/hair/eye pigmentation, variation in, 4|
|CLNSRC||ClinVar OMIM Allelic Variant|
[PMID 16255080] A haplotype map of the human genome.
[PMID 17557415] A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.
[PMID 17999355] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 18248681] Prevalence of common disease-associated variants in Asian Indians.
[PMID 18282109] Adaptations to climate in candidate genes for common metabolic disorders.
[PMID 18637132] A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects.
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
[PMID 19503611] The role of geography in human adaptation.
[PMID 19737746] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
[PMID 19884608] Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations.
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 23100201] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
[PMID 23224873] NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes.
[PMID 23771755] Improved eye- and skin-color prediction based on 8 SNPs.