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