PMID: 18252221

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

American journal of human genetics
M Kayser, F Liu, AC Janssens, F Rivadeneira, O Lao, K van Duijn, M Vermeulen, P Arp, MM Jhamai, WF van Ijcken, JT den Dunnen, S Heath, D Zelenika, DD Despriet, CC Klaver, JR Vingerling, PT de Jong, A Hofman, YS Aulchenko, AG Uitterlinden, BA Oostra, CM van Duijn
2008-02

36 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28496195-A-G HERC2 c.3051-2313T>C - IntronicSNV - 20/92
15-28494032-G-A HERC2 c.3051-150C>T - IntronicSNV - 20/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28199853-C-A OCA2 c.1842+451G>T - IntronicSNV - 17/23
15-28526228-G-A HERC2 c.323-795C>T - IntronicSNV - 4/92
15-28282741-G-T OCA2 c.228-5432C>A - IntronicSNV - 2/23
15-28510895-G-A HERC2 c.1757-18C>T - IntronicSNV - 13/92
15-28530359-G-A HERC2 c.323-4926C>T - IntronicSNV - 4/92
15-28323770-A-G OCA2 c.227+3024T>C - IntronicSNV - 2/23
15-28327835-C-G OCA2 c.1-815G>C - IntronicSNV - 1/23
15-28535266-A-C HERC2 c.322+2768T>G - IntronicSNV - 4/92
15-28365733-C-A HERC2 c.13272+759G>T - IntronicSNV - 86/92
15-28488888-T-C HERC2 c.3577+2139A>G - IntronicSNV - 23/92
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
15-28440287-T-C HERC2 c.8260+1074A>G - IntronicSNV - 52/92
15-28440287-T-A HERC2 c.8260+1074A>T - IntronicSNV - 52/92
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
15-28185038-G-C OCA2 c.1951+11892C>G - IntronicSNV - 18/23
15-28520506-A-G HERC2 c.543-355T>C - IntronicSNV - 5/92
15-28281765-C-T OCA2 c.228-4456G>A - IntronicSNV - 2/23
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
15-28185038-G-A OCA2 c.1951+11892C>T - IntronicSNV - 18/23
15-28522684-T-C HERC2 c.542+2530A>G - IntronicSNV - 5/92
15-28522684-T-A HERC2 c.542+2530A>T - IntronicSNV - 5/92
15-28272065-C-T OCA2 c.515+952G>A - IntronicSNV - 4/23
15-28338713-A-C OCA2 c.-22+5657T>G - intron_variant - 1/23
15-28272065-C-A OCA2 c.515+952G>T - IntronicSNV - 4/23
15-28327835-C-A OCA2 c.1-815G>T - IntronicSNV - 1/23
15-28283689-C-T OCA2 c.228-6380G>A - IntronicSNV - 2/23
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28294922-G-A OCA2 c.228-17613C>T - IntronicSNV - 2/23
15-28294922-G-T OCA2 c.228-17613C>A - IntronicSNV - 2/23
15-28443658-G-T HERC2 c.7886-9C>A - IntronicSNV - 49/92
15-28516084-C-T HERC2 c.1084-70G>A - IntronicSNV - 9/92