PMID: 23118974

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

PloS one
SI Candille, DM Absher, S Beleza, M Bauchet, B McEvoy, NA Garrison, JZ Li, RM Myers, GS Barsh, H Tang, MD Shriver
2012

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28526228-G-A HERC2 c.323-795C>T - IntronicSNV - 4/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28535266-A-C HERC2 c.322+2768T>G - IntronicSNV - 4/92
5-33964210-T-G SLC45A2 c.563-89A>C - IntronicSNV - 2/6
5-106954545-A-T EFNA5 c.125+51645T>A - IntronicSNV - 1/4
7-12660526-C-T SCIN c.1-1975C>T - IntronicSNV - 2/13
7-12660526-C-G SCIN c.1-1975C>G - IntronicSNV - 2/13
15-28488888-T-C HERC2 c.3577+2139A>G - IntronicSNV - 23/92
3-58050265-C-T FLNB c.293-12508C>T - IntronicSNV - 1/45
5-106951357-G-A EFNA5 c.125+54833C>T - IntronicSNV - 1/4
7-12665739-G-T SCIN c.240+264G>T - IntronicSNV - 5/13
7-12660526-C-A SCIN c.1-1975C>A - IntronicSNV - 2/13
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
7-12665739-G-A SCIN c.240+264G>A - IntronicSNV - 5/13
5-33964210-T-A SLC45A2 c.563-89A>T - IntronicSNV - 2/6
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
3-58063819-G-A FLNB c.542-625G>A - IntronicSNV - 2/45
15-28516084-C-T HERC2 c.1084-70G>A - IntronicSNV - 9/92