PMID: 28701907

Adaptation of human skin color in various populations.

Hereditas
L Deng, S Xu
2018

71 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28234769-G-A OCA2 c.1160C>T p.Thr387Met Missense 11/24 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89984604-T-C MC1R c.1-1063T>C - 5-UTRSNV 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
9-12694273-C-T TYRP1 c.277C>T p.Arg93Cys Missense 2/8 -
11-88911494-G-T TYR c.373G>T p.Asp125Tyr Missense 1/5 -
11-88911494-G-A TYR c.373G>A p.Asp125Asn Missense 1/5 -
5-33954511-T-C SLC45A2 c.987A>G p.Thr329Thr Synonymous 4/7 -
11-68846399-A-C TPCN2 c.1450A>C p.Met484Leu Missense 16/25 -
11-68846399-A-T TPCN2 c.1450A>T p.Met484Leu Missense 16/25 -
13-95092896-T-C DCT c.1481-566A>G - IntronicSNV - 9/9
5-33948589-T-C SLC45A2 c.1157-1110A>G - IntronicSNV - 5/6
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
11-95773435-A-G MAML2 c.2140-48548T>C - IntronicSNV - 2/4
13-95111509-T-C DCT c.1179+836A>G - IntronicSNV - 6/9
13-95100841-A-C DCT c.1236-2826T>G - IntronicSNV - 7/9
13-95100841-A-G DCT c.1236-2826T>C - IntronicSNV - 7/9
13-95100841-A-T DCT c.1236-2826T>A - IntronicSNV - 7/9
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
15-28283441-A-G OCA2 c.228-6132T>C - IntronicSNV - 2/23
15-48433494-A-G MYEF2 c.*1611T>C - 3-UTRSNV 17/17 -
15-28197037-T-C OCA2 c.1844A>G p.His615Arg Missense 18/24 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
9-12704725-C-A TYRP1 c.1261+20C>A - IntronicSNV - 6/7
9-12704725-C-G TYRP1 c.1261+20C>G - IntronicSNV - 6/7
15-28197037-T-A OCA2 c.1844A>T p.His615Leu Missense 18/24 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
16-89985997-G-A MC1R c.331G>A p.Ala111Thr Missense 1/1 -
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-90022693-T-C DEF8 c.405+1019T>C - IntronicSNV - 4/12
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
14-92800004-A-T SLC24A4 c.241+7682A>T - IntronicSNV - 2/16
13-95096013-T-C DCT c.1279-122A>G - IntronicSNV - 8/9
5-33944848-T-C SLC45A2 c.1498A>G p.Thr500Ala Missense 7/7 -
11-68855363-G-A TPCN2 c.2201G>A p.Gly734Glu Missense 25/25 -
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
15-29261716-C-T APBA2 c.-94-26240C>T - intron_variant - 1/13
20-33355046-G-A NCOA6 c.514+1221C>T - IntronicSNV - 5/14
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
9-12709586-A-T TYRP1 c.*404A>T - 3-UTRSNV 8/8 -
13-95094385-C-T DCT c.1480+1305G>A - IntronicSNV - 9/9
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
9-12703484-A-G TYRP1 c.1082-1042A>G - IntronicSNV - 5/7
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
15-28511997-C-T HERC2 c.1599-877G>A - IntronicSNV - 12/92
5-33950703-A-G SLC45A2 c.1156+956T>C - IntronicSNV - 5/6
13-95094385-C-A DCT c.1480+1305G>T - IntronicSNV - 9/9
13-95094385-C-G DCT c.1480+1305G>C - IntronicSNV - 9/9
13-95096013-T-A DCT c.1279-122A>T - IntronicSNV - 8/9
15-28230097-C-T OCA2 c.1364+113G>A - IntronicSNV - 13/23
20-32856998-A-G ASIP c.*25A>G - 3-UTRSNV 3/3 -
5-33944848-T-G SLC45A2 c.1498A>C p.Thr500Pro Missense 7/7 -
13-95092896-T-A DCT c.1481-566A>T - IntronicSNV - 9/9
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
9-12704725-C-T TYRP1 c.1261+20C>T - IntronicSNV - 6/7
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92