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

71 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89805261-A-G FANCA c.4260+29T>C - IntronicSNV - 42/42
16-89805261-A-C FANCA c.4260+29T>G - IntronicSNV - 42/42
16-89869761-T-C FANCA c.710-12A>G - IntronicSNV - 7/42
15-28526228-G-A HERC2 c.323-795C>T - IntronicSNV - 4/92
15-28181981-T-G OCA2 c.1952-10581A>C - IntronicSNV - 18/23
15-28181981-T-A OCA2 c.1952-10581A>T - IntronicSNV - 18/23
16-89385561-C-T ANKRD11 c.1-2134G>A - IntronicSNV - 2/12
16-89712889-C-G CHMP1A c.569+46G>C - IntronicSNV - 6/6
16-89712889-C-T CHMP1A c.569+46G>A - IntronicSNV - 6/6
16-89836323-C-T FANCA c.2426G>A p.Gly809Asp Missense 26/43 -
15-28535266-A-C HERC2 c.322+2768T>G - IntronicSNV - 4/92
16-89726484-G-A SPATA33 c.208+1655G>A - IntronicSNV - 2/2
16-90141477-T-G PRDM7 c.194-46A>C - IntronicSNV - 2/9
16-89726484-G-T SPATA33 c.208+1655G>T - IntronicSNV - 2/2
16-90141477-T-A PRDM7 c.194-46A>T - IntronicSNV - 2/9
16-89386808-A-G ANKRD11 c.1-3381T>C - IntronicSNV - 2/12
15-28520506-A-G HERC2 c.543-355T>C - IntronicSNV - 5/92
16-89814807-T-C FANCA c.3348+260A>G - IntronicSNV - 33/42
16-89692298-A-T DPEP1 c.1-4521A>T - IntronicSNV - 1/10
16-89692298-A-G DPEP1 c.1-4521A>G - IntronicSNV - 1/10
6-535839-G-T EXOC2 c.2239-3229C>A - IntronicSNV - 22/27
16-89730827-T-G SPATA33 c.209-4867T>G - IntronicSNV - 2/2
16-89730827-T-C SPATA33 c.209-4867T>C - IntronicSNV - 2/2
16-89875710-A-C FANCA c.523-935T>G - IntronicSNV - 5/42
16-89869761-T-G FANCA c.710-12A>C - IntronicSNV - 7/42
16-90037828-G-A CENPBD1 c.503C>T p.Thr168Ile Missense 1/1 -
16-90037828-G-C CENPBD1 c.503C>G p.Thr168Arg Missense 1/1 -
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
16-89648580-C-T CPNE7 c.498-1272C>T - IntronicSNV - 3/16
6-518078-G-A EXOC2 c.2380+14391C>T - IntronicSNV - 23/27
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
16-89352678-G-C ANKRD11 c.745-84C>G - IntronicSNV - 7/12
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
16-89344477-C-T ANKRD11 c.7470+1003G>A - IntronicSNV - 9/12
6-535839-G-A EXOC2 c.2239-3229C>T - IntronicSNV - 22/27
15-28221138-G-A OCA2 c.1503+7353C>T - IntronicSNV - 14/23
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
16-89352678-G-A ANKRD11 c.745-84C>T - IntronicSNV - 7/12
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
16-89764549-G-A SPATA2L c.468C>T p.Phe156Phe Synonymous 3/3 -
16-89344477-C-G ANKRD11 c.7470+1003G>C - IntronicSNV - 9/12
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28516084-C-T HERC2 c.1084-70G>A - IntronicSNV - 9/92
15-28386626-C-T HERC2 c.11967G>A p.Gln3989Gln Synonymous 78/93 -
15-28494032-G-A HERC2 c.3051-150C>T - IntronicSNV - 20/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
16-90130136-C-T PRDM7 c.392G>A p.Arg131Lys Missense 5/10 -
14-92801203-G-A SLC24A4 c.241+8881G>A - IntronicSNV - 2/16
15-28199853-C-A OCA2 c.1842+451G>T - IntronicSNV - 17/23
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
15-28157259-G-T OCA2 c.2079+14014C>A - IntronicSNV - 19/23
16-90024202-G-A DEF8 c.555+134G>A - IntronicSNV - 5/12
15-28365733-C-A HERC2 c.13272+759G>T - IntronicSNV - 86/92
16-89851033-C-G FANCA c.1470+229G>C - IntronicSNV - 15/42
16-89603586-A-G SPG7 c.1324+4542A>G - IntronicSNV - 9/16
16-89851033-C-T FANCA c.1470+229G>A - IntronicSNV - 15/42
16-89656251-T-C CPNE7 c.1287-54T>C - IntronicSNV - 12/16
16-89920025-C-T SPIRE2 c.646-669C>T - IntronicSNV - 3/14
5-33986409-C-G AMACR c.*2789G>C - IntergenicSNV 5/5 -
5-33986409-C-T AMACR c.*2789G>A - IntergenicSNV 5/5 -
5-33955673-T-C SLC45A2 c.889-1064A>G - IntronicSNV - 3/6
6-542159-A-G EXOC2 c.2238+7016T>C - IntronicSNV - 22/27
16-89355278-A-G ANKRD11 c.602-200T>C - IntronicSNV - 6/12
16-89294439-G-T ZNF778 c.1659G>T p.Gln553His Missense 6/6 -
16-89294439-G-A ZNF778 c.1659G>A p.Gln553Gln Synonymous 6/6 -
15-28328765-G-A OCA2 c.1-1745C>T - IntronicSNV - 1/23
15-28199305-A-C OCA2 c.1842+999T>G - IntronicSNV - 17/23
16-89795485-C-T ZNF276 c.861-158C>T - IntronicSNV - 5/10
15-28488888-T-C HERC2 c.3577+2139A>G - IntronicSNV - 23/92
16-89754255-T-G CDK10 c.-127+1088T>G - intron_variant - 1/12