PMID: 30664655

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature communications
K Adhikari, J Mendoza-Revilla, A Sohail, M Fuentes-Guajardo, J Lampert, JC Chacón-Duque, M Hurtado, V Villegas, V Granja, V Acuña-Alonzo, C Jaramillo, W Arias, RB Lozano, P Everardo, J Gómez-Valdés, H Villamil-Ramírez, CC Silva de Cerqueira, T Hunemeier, V Ramallo, L Schuler-Faccini, FM Salzano, R Gonzalez-José, MC Bortolini, S Canizales-Quinteros, C Gallo, G Poletti, G Bedoya, F Rothhammer, DJ Tobin, M Fumagalli, D Balding, A Ruiz-Linares
2019-01-21

133 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-95773435-A-G MAML2 c.2140-48548T>C - IntronicSNV - 2/4
15-59175467-C-T SLTM c.2996+358G>A - IntronicSNV - 20/20
1-213126565-G-A VASH2 c.276+1405G>A - IntronicSNV - 2/5
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
20-33355046-G-A NCOA6 c.514+1221C>T - IntronicSNV - 5/14
6-111993747-G-A FYN c.1405+1955C>T - IntronicSNV - 13/13
8-15500967-T-C TUSC3 c.309-7239T>C - IntronicSNV - 2/10
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
11-61106892-G-T TKFC c.471G>T p.Thr157Thr Synonymous 5/18 -
15-28515892-AC-AA HERC2 c.1205_1206delGTinsAA p.Arg402Gln Missense 10/93 -
20-43739119-G-A WFDC5 c.289C>T p.His97Tyr Missense 3/4 -
14-92800004-A-T SLC24A4 c.241+7682A>T - IntronicSNV - 2/16
11-61106892-G-C TKFC c.471G>C p.Thr157Thr Synonymous 5/18 -
13-95096013-T-A DCT c.1279-122A>T - IntronicSNV - 8/9
3-167480661-G-A SERPINI1 c.1-26256G>A - IntronicSNV - 1/8
11-88511524-G-T GRM5 c.911+71550C>A - IntronicSNV - 3/8
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
15-29261716-C-T APBA2 c.-94-26240C>T - intron_variant - 1/13
21-38510616-G-A TTC3 c.1579-318G>A - IntronicSNV - 18/45
5-33967145-C-G SLC45A2 c.563-3024G>C - IntronicSNV - 2/6
5-314935-T-A PDCD6 c.*305T>A - 3-UTRSNV 6/6 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
5-33948589-T-C SLC45A2 c.1157-1110A>G - IntronicSNV - 5/6
16-90026512-T-C DEF8 c.698-827T>C - IntronicSNV - 6/12
11-68855363-G-A TPCN2 c.2201G>A p.Gly734Glu Missense 25/25 -
17-79596811-C-A NPLOC4 c.36G>T p.Pro12Pro Synonymous 2/17 -
16-89818732-C-G FANCA c.2982-102G>C - IntronicSNV - 30/42
15-28533565-G-T HERC2 c.322+4469C>A - IntronicSNV - 4/92
22-31113081-G-T OSBP2 c.644+21541G>T - IntronicSNV - 1/13
1-205119113-T-C DSTYK c.2467+695A>G - IntronicSNV - 11/12
15-50307416-A-G ATP8B4 c.363-4302T>C - IntronicSNV - 6/27
15-50307416-A-C ATP8B4 c.363-4302T>G - IntronicSNV - 6/27
11-88911494-G-T TYR c.373G>T p.Asp125Tyr Missense 1/5 -
1-205112911-T-C DSTYK c.*3775A>G - 3-UTRSNV 13/13 -
1-205112911-T-G DSTYK c.*3775A>C - 3-UTRSNV 13/13 -
1-235907825-G-A LYST c.7973-368C>T - IntronicSNV - 29/52
5-33952106-C-T SLC45A2 c.1033-324G>A - IntronicSNV - 4/6
15-28380518-T-A HERC2 c.12230+106A>T - IntronicSNV - 79/92
17-79596811-C-T NPLOC4 c.36G>A p.Pro12Pro Synonymous 2/17 -
15-28511997-C-T HERC2 c.1599-877G>A - IntronicSNV - 12/92
15-28533565-G-C HERC2 c.322+4469C>G - IntronicSNV - 4/92
15-28533565-G-A HERC2 c.322+4469C>T - IntronicSNV - 4/92
11-88911494-G-A TYR c.373G>A p.Asp125Asn Missense 1/5 -
2-234672639-G-T UGT1A1 c.864+2842G>T - IntronicSNV - 1/4
21-43227915-A-G PRDM15 c.3750+2595T>C - IntronicSNV - 28/30
13-113819785-A-G PROZ c.573+351A>G - IntronicSNV - 6/7
15-48433494-A-G MYEF2 c.*1611T>C - 3-UTRSNV 17/17 -
21-38507572-T-C TTC3 c.1444-108T>C - IntronicSNV - 17/45
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
1-235907825-G-T LYST c.7973-368C>A - IntronicSNV - 29/52
9-12704725-C-T TYRP1 c.1261+20C>T - IntronicSNV - 6/7
5-314935-T-C PDCD6 c.*305T>C - 3-UTRSNV 6/6 -
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
1-235907825-G-C LYST c.7973-368C>G - IntronicSNV - 29/52
7-36685144-T-C AOAH c.391-7628A>G - IntronicSNV - 4/20
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
9-12704725-C-A TYRP1 c.1261+20C>A - IntronicSNV - 6/7
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
6-542159-A-G EXOC2 c.2238+7016T>C - IntronicSNV - 22/27
15-28213850-C-T OCA2 c.1504-1882G>A - IntronicSNV - 14/23
21-38521842-A-T TTC3 c.2119-536A>T - IntronicSNV - 23/45
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
17-79591813-C-T NPLOC4 c.97-2509G>A - IntronicSNV - 2/16
5-33964210-T-G SLC45A2 c.563-89A>C - IntronicSNV - 2/6
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 -
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
20-33867697-A-G EIF6 c.546+48T>C - IntronicSNV - 5/6
15-50308950-A-G ATP8B4 c.363-5836T>C - IntronicSNV - 6/27
20-36662831-A-C RPRD1B c.151+331A>C - IntronicSNV - 1/6
20-36662831-A-G RPRD1B c.151+331A>G - IntronicSNV - 1/6
10-25207241-G-A PRTFDC1 c.339+18872C>T - IntronicSNV - 3/8
15-28514281-T-A HERC2 c.1446+113A>T - IntronicSNV - 11/92
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 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
20-32856998-A-G ASIP c.*25A>G - 3-UTRSNV 3/3 -
16-89736157-C-T SPATA33 c.*252C>T - 3-UTRSNV 3/3 -
15-66319806-G-A MEGF11 c.395-44980C>T - IntronicSNV - 5/22
21-38521842-A-G TTC3 c.2119-536A>G - IntronicSNV - 23/45
21-38521842-A-C TTC3 c.2119-536A>C - IntronicSNV - 23/45
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
15-66319806-G-T MEGF11 c.395-44980C>A - IntronicSNV - 5/22
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
2-240030484-C-T HDAC4 c.1964-605G>A - IntronicSNV - 14/26
19-3544892-C-T MFSD12 c.1335G>A p.Ala445Ala Synonymous 9/10 -
17-79664426-C-T HGS c.1882+398C>T - IntronicSNV - 18/21
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
11-88557991-A-G GRM5 c.911+25083T>C - IntronicSNV - 3/8
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
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 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
19-3544892-C-A MFSD12 c.1335G>T p.Ala445Ala Synonymous 9/10 -
19-3544892-C-G MFSD12 c.1335G>C p.Ala445Ala Synonymous 9/10 -
1-17722363-G-A PADI6 c.1618+204G>A - intron_variant - 14/16
14-92866905-T-C SLC24A4 c.242-33351T>C - IntronicSNV - 2/16
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
15-28514281-T-C HERC2 c.1446+113A>G - IntronicSNV - 11/92
14-92866905-T-A SLC24A4 c.242-33351T>A - IntronicSNV - 2/16
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
19-3545022-C-T MFSD12 c.1290-85G>A - IntronicSNV - 8/9
21-38491095-A-T TTC3 c.901-3022A>T - IntronicSNV - 11/45
21-38491095-A-G TTC3 c.901-3022A>G - IntronicSNV - 11/45
5-107400505-G-A FBXL17 c.1746-43803C>T - IntronicSNV - 6/8
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
19-3548231-A-G MFSD12 c.544T>C p.Tyr182His Missense 3/10 -
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
5-149210848-C-T PPARGC1B c.582+402C>T - IntronicSNV - 4/11
11-95895552-G-A MAML2 c.514-68871C>T - IntronicSNV - 1/4
11-95895552-G-T MAML2 c.514-68871C>A - IntronicSNV - 1/4
7-122042978-T-C CADPS2 c.2746+4616A>G - IntronicSNV - 20/29
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
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 -
5-33955673-T-C SLC45A2 c.889-1064A>G - IntronicSNV - 3/6
20-32665748-A-G RALY c.829-563A>G - IntronicSNV - 7/8
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
5-178762064-C-A ADAMTS2 c.534+8704G>T - IntronicSNV - 2/21
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
16-90022693-T-C DEF8 c.405+1019T>C - IntronicSNV - 4/12
9-12704725-C-G TYRP1 c.1261+20C>G - IntronicSNV - 6/7
9-12703484-A-G TYRP1 c.1082-1042A>G - IntronicSNV - 5/7
15-28196821-T-C OCA2 c.1951+109A>G - IntronicSNV - 18/23
11-88976157-T-C TYR c.1184+15019T>C - IntronicSNV - 3/4
13-95096013-T-C DCT c.1279-122A>G - IntronicSNV - 8/9