See also appearance
The genetics of eye color, like hair color, are still being worked out, and it's clear that several genes can modify the eventual outcome. In a population sense, it should be noted that all populations except Caucasians basically have brown eyes, while amongst Caucasians one categorization that researchers track is blue vs non-blue.
This 2012 article identifies 3 distinct haplotypes for blue eye color.
- rs916977(G) - not in HGDP
- rs1667394(A) - in thearticle, this one was the only HERC2 given in plus orientation
One gene with a significant role in determining blue eye color is OCA2, a gene with variants first linked to albinism and perhaps melanoma risk.
The following OCA2 variants, all located in the first intron of the gene, have been linked to blue eye inheritance; together, they form a haplotype that occurs in 90% of individuals seen with blue or green eye color, but can also be seen in 10% of individuals with brown eye color. [PMID 17236130]
More recently, one potentially functional OCA2 SNP that is part of a 13 SNP haplotype covering 166kB located at the other side of the gene has been found in 97% of individuals with blue eye color [PMID 18172690]:
See also OMIM 203200.0013
gs237 is about eye color
gnxp Eye color snps
- rs1408799 C>T
- rs2733832 C>T
- rs1800401 C>T
- rs1800407 G>A
- rs1800414 A>G
- rs12913823 T>C
- rs4911442 A>G
- rs6058017 A>G
- rs105362 A>G
- rs4911414 G>T
- rs12896399 G>T
Other snps linked to eye color:
- rs1533995 is equivalent to rs10235789
- A=More crypts
- A=More pronounced furrows
- rs12896399 is equivalent to rs4900109
- G= Pigmented rings
An investigation of not blue eyes
Read rules from top to bottom. In some cases, a rule cancels out results from rules above it.
- CC at: rs3794604 - Blocks some melanin. Often gives light colored eyes.
- GG at: rs7174027 - Blocks some melanin. Often gives light colored eyes.
- CC at: rs4778241 - Low Melanin. Basis for Gray, Blue, Green, or Yellow Eyes if no other pigmentation is present.
- CC at: rs9782955 - Blocks some melanin. Often gives light colored eyes.
- CT at: rs989869 - Contrasting sphincter around pupil.
- AA at: rs4778138 - Weak Amber Gradient
- TT at: rs1129038 - Penetrance modifier. Blue.
- GG at: rs12906280 - Gray ring around outer edge
- GG at: rs16891982 - Starburst (Collarette)
- TT at: rs1667394 - Starburst (Collarette)
- CC at: rs12203592 - No pigmented Collarette.
- https://www.23andme.com/you/community/thread/29448/ By anksil on Aug 28, 2014