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User:JohnLloydScharf/Skin Coloring

From SNPedia

Skin Coloring[edit]


  • rs10426028 19 37465208 TT???? Old Affy FTDNA, not new Illumina
Genotype Effect
rs1042602(A;A) associated with the absence of freckles
rs1042602(A;C) None
rs1042602(C;C) None
http://www.snpedia.com/index.php/Rs1042602


  • rs1126809 11 88657609 AG
rs1126809(A;A) slight increase in skin cancer risk
rs1126809(A;G) slight increase in skin cancer risk
rs1126809(G;G) normal
http://www.snpedia.com/index.php/Rs1126809


"rs1426654","15","46213776","AA" SLC24A5 111*A, rs1426654 European 96% West African 9%

[PMID 17182896] Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians
Mol Biol Evol (2007) 24 (3): 710-722. doi: 10.1093/molbev/msl203
http://mbe.oxfordjournals.org/content/24/3/710.full
http://mbe.oxfordjournals.org/content/24/3/710/T1.expansion.html
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=1426654
rs1426654 15 46213776 AA
Rs1426654(A;A) 2.7 probably light-skinned, European ancestry
Rs1426654(A;G) 2.5 mixed African/European ancestry possible
Rs1426654(G;G) 2.6 probably darker-skinned, Asian or African ancestry
This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either European, African, or Asian, based on a 2009 study.[PMID 19440451] The 3 SNPs are:
rs1426654 AA


  • "rs1800404","15","25909368","TT" - OCA2 355*A, rs1800404 European=58% West African=4%
[PMID 17182896] Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians
Mol Biol Evol (2007) 24 (3): 710-722. doi: 10.1093/molbev/msl203
http://mbe.oxfordjournals.org/content/24/3/710.full
http://mbe.oxfordjournals.org/content/24/3/710/T1.expansion.html
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=1800404


  • "rs1800414","15","25870632","TT
Edwards M, Bigham A, Tan J, Li S, Gozdzik A, et al. 2010
Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation.
PLoS Genet 6(3): e1000867. doi:10.1371/journal.pgen.1000867
http://www.plosgenetics.org/article/showImageLarge.action?uri=info%3Adoi%2F10.1371%2Fjournal.pgen.1000867.t004
http://blogs.discovermagazine.com/gnxp/2010/03/oca2-makes-east-asians-white-and-europeans-blue/


  • "rs1805006","16","88513419","CC"
Genotype Effect
rs1805006(A;A)* ?
rs1805006(A;C)* ?
rs1805006(C;C)
http://www.snpedia.com/index.php/Rs1805006
rs1805006, known as Asp84Glu or D84E, is one of several SNPs in the MC1R gene associated with higher risk of melanoma. [PMID 8894704] The risk allele is rs1805006(A), compared with the wild-type rs1805006(C) allele.
Allelic odds ratio for pale skin(P-value)=5.19(<1.0e-5)MC1R*D84E rs1805006 :http://genepi.qimr.edu.au/contents/p/staff/Duffyetal_JID_520-528Jan10.pdf


  • "rs2228478","16","88514109","AA" MC1R 314*G, rs2228478 European=52% West African=11%
[PMID 17182896] Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians
Mol Biol Evol (2007) 24 (3): 710-722. doi: 10.1093/molbev/msl203
http://mbe.oxfordjournals.org/content/24/3/710.full
http://mbe.oxfordjournals.org/content/24/3/710/T1.expansion.html
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=2228478


  • "rs2228479","16","88513441","GG" MC1R 92*G, rs2228479
[PMID 17182896] Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians
Mol Biol Evol (2007) 24 (3): 710-722. doi: 10.1093/molbev/msl203
http://mbe.oxfordjournals.org/content/24/3/710.full
http://mbe.oxfordjournals.org/content/24/3/710/T1.expansion.html
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=2228479


rs2555364 NONE
rs16960620 NONE