PMID: 18483556

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

PLoS genetics
J Han, P Kraft, H Nan, Q Guo, C Chen, A Qureshi, SE Hankinson, FB Hu, DL Duffy, ZZ Zhao, NG Martin, GW Montgomery, NK Hayward, G Thomas, RN Hoover, S Chanock, DJ Hunter
2008-05-16

35 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28526228-G-A HERC2 c.323-795C>T - IntronicSNV - 4/92
16-90024202-G-A DEF8 c.555+134G>A - IntronicSNV - 5/12
15-28365733-C-A HERC2 c.13272+759G>T - IntronicSNV - 86/92
15-28535266-A-C HERC2 c.322+2768T>G - IntronicSNV - 4/92
15-28199305-A-C OCA2 c.1842+999T>G - IntronicSNV - 17/23
16-89836323-C-T FANCA c.2426G>A p.Gly809Asp Missense 26/43 -
5-33986409-C-T AMACR c.*2789G>A - IntergenicSNV 5/5 -
16-90141477-T-G PRDM7 c.194-46A>C - IntronicSNV - 2/9
15-28488888-T-C HERC2 c.3577+2139A>G - IntronicSNV - 23/92
16-89726484-G-T SPATA33 c.208+1655G>T - IntronicSNV - 2/2
16-90141477-T-A PRDM7 c.194-46A>T - IntronicSNV - 2/9
16-89692298-A-G DPEP1 c.1-4521A>G - IntronicSNV - 1/10
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
5-33986409-C-G AMACR c.*2789G>C - IntergenicSNV 5/5 -
16-89692298-A-T DPEP1 c.1-4521A>T - IntronicSNV - 1/10
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
6-518078-G-A EXOC2 c.2380+14391C>T - IntronicSNV - 23/27
5-33955673-T-C SLC45A2 c.889-1064A>G - IntronicSNV - 3/6
6-542159-A-G EXOC2 c.2238+7016T>C - IntronicSNV - 22/27
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
15-28328765-G-A OCA2 c.1-1745C>T - IntronicSNV - 1/23
16-89726484-G-A SPATA33 c.208+1655G>A - IntronicSNV - 2/2
16-89795485-C-T ZNF276 c.861-158C>T - IntronicSNV - 5/10
6-535839-G-A EXOC2 c.2239-3229C>T - IntronicSNV - 22/27
6-535839-G-T EXOC2 c.2239-3229C>A - IntronicSNV - 22/27
16-89385561-C-T ANKRD11 c.1-2134G>A - IntronicSNV - 2/12
15-28516084-C-T HERC2 c.1084-70G>A - IntronicSNV - 9/92
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28386626-C-T HERC2 c.11967G>A p.Gln3989Gln Synonymous 78/93 -
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92