PMID: 28500464

Global skin colour prediction from DNA.

Human genetics
S Walsh, L Chaitanya, K Breslin, C Muralidharan, A Bronikowska, E Pospiech, J Koller, L Kovatsi, A Wollstein, W Branicki, F Liu, M Kayser
2017-07

79 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
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
10-8103298-A-G GATA3 c.778+2494A>G - IntronicSNV - 3/5
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
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
10-53820579-T-A PRKG1 c.796-1718T>A - IntronicSNV - 6/17
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
5-33954511-T-C SLC45A2 c.987A>G p.Thr329Thr Synonymous 4/7 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
15-28453215-A-G HERC2 c.7070-1687T>C - IntronicSNV - 44/92
16-89383725-T-C ANKRD11 c.1-298A>G - IntronicSNV - 2/12
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
15-28502744-G-A HERC2 c.2317-337C>T - IntronicSNV - 16/92
15-28468723-T-G HERC2 c.5465-1362A>C - IntronicSNV - 35/92
2-25329016-C-T EFR3B c.363+2360C>T - IntronicSNV - 4/22
2-25329016-C-G EFR3B c.363+2360C>G - IntronicSNV - 4/22
15-28187772-A-T OCA2 c.1951+9158T>A - IntronicSNV - 18/23
16-89985918-C-G MC1R c.252C>G p.Asp84Glu 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 -
20-33218090-G-A PIGU c.529+4329C>T - IntronicSNV - 6/11
16-89984378-C-T MC1R c.1-1289C>T - 5-UTRSNV 1/1 -
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -
15-28282741-G-T OCA2 c.228-5432C>A - IntronicSNV - 2/23
16-90024202-G-A DEF8 c.555+134G>A - IntronicSNV - 5/12
20-32850375-T-A ASIP c.161-263T>A - IntronicSNV - 1/2
20-32850375-T-C ASIP c.161-263T>C - IntronicSNV - 1/2
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
14-92882826-A-G SLC24A4 c.242-17430A>G - IntronicSNV - 2/16
15-28467935-T-C HERC2 c.5465-574A>G - IntronicSNV - 35/92
13-95092896-T-C DCT c.1481-566A>G - IntronicSNV - 9/9
5-33986409-C-T AMACR c.*2789G>A - IntergenicSNV 5/5 -
15-28283507-G-A OCA2 c.228-6198C>T - IntronicSNV - 2/23
15-28288121-G-T OCA2 c.228-10812C>A - IntronicSNV - 2/23
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
12-88961713-A-G KITLG c.15+12328T>C - IntronicSNV - 1/8
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
20-33576989-C-G MYH7B c.1714-554C>G - IntronicSNV - 19/44
15-28283441-A-G OCA2 c.228-6132T>C - IntronicSNV - 2/23
16-89692298-A-G DPEP1 c.1-4521A>G - IntronicSNV - 1/10
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
11-88557991-A-G GRM5 c.911+25083T>C - IntronicSNV - 3/8
10-53821327-C-T PRKG1 c.796-970C>T - IntronicSNV - 6/17
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
15-28197037-T-A OCA2 c.1844A>T p.His615Leu Missense 18/24 -
9-12709305-C-A TYRP1 c.*123C>A - 3-UTRSNV 8/8 -
16-89692298-A-T DPEP1 c.1-4521A>T - IntronicSNV - 1/10
15-28197037-T-C OCA2 c.1844A>G p.His615Arg Missense 18/24 -
5-33986409-C-G AMACR c.*2789G>C - IntergenicSNV 5/5 -
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 -
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
16-90024206-A-G DEF8 c.555+138A>G - IntronicSNV - 5/12
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
11-68855363-G-A TPCN2 c.2201G>A p.Gly734Glu Missense 25/25 -
14-92801203-G-A SLC24A4 c.241+8881G>A - IntronicSNV - 2/16
20-32665748-A-G RALY c.829-563A>G - IntronicSNV - 7/8
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89849480-C-T FANCA c.1501G>A p.Gly501Ser Missense 16/43 -
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 -
13-97260901-G-A HS6ST3 c.708-223843G>A - IntronicSNV - 1/1
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
5-33950703-A-G SLC45A2 c.1156+956T>C - IntronicSNV - 5/6
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
15-28271775-G-A OCA2 c.515+1242C>T - IntronicSNV - 4/23
15-28271775-G-C OCA2 c.515+1242C>G - IntronicSNV - 4/23
20-32856998-A-G ASIP c.*25A>G - 3-UTRSNV 3/3 -
13-95092896-T-A DCT c.1481-566A>T - IntronicSNV - 9/9