PMID: 20042077

Genetic determinants of hair and eye colours in the Scottish and Danish populations.

BMC genetics
J Mengel-From, TH Wong, N Morling, JL Rees, IJ Jackson
2009-12-30

101 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28292178-T-C OCA2 c.228-14869A>G - IntronicSNV - 2/23
10-50691360-T-C ERCC6 c.1992+32A>G - IntronicSNV - 9/20
15-52708000-G-A MYO5A c.612+342C>T - IntronicSNV - 5/40
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -
15-28080584-A-G OCA2 c.2432+9521T>C - IntronicSNV - 23/23
15-28268990-C-A OCA2 c.573+1001G>T - IntronicSNV - 5/23
5-60183544-T-C ERCC8 c.1042-197A>G - IntronicSNV - 10/11
3-148869631-T-C HPS3 c.1245+1164T>C - IntronicSNV - 6/16
15-52694663-C-T MYO5A c.1053+2821G>A - IntronicSNV - 9/40
15-28049304-A-G OCA2 c.2432+40801T>C - IntronicSNV - 23/23
3-148881126-G-A HPS3 c.2481+461G>A - IntronicSNV - 13/16
16-89985222-G-A MC1R c.1-445G>A - 5-UTRSNV 1/1 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
15-52694663-C-G MYO5A c.1053+2821G>C - IntronicSNV - 9/40
6-15604455-A-G DTNBP1 c.488+11043T>C - IntronicSNV - 6/9
22-26868490-C-T HPS4 c.385-106G>A - IntronicSNV - 5/13
3-148868247-A-C HPS3 c.1164-139A>C - IntronicSNV - 5/16
3-148852455-G-A HPS3 c.217+4728G>A - IntronicSNV - 1/16
10-50666808-A-G ERCC6 c.*53T>C - 3-UTRSNV 21/21 -
13-95110544-C-T DCT c.1179+1801G>A - IntronicSNV - 6/9
15-28014104-C-T OCA2 c.2433-13486G>A - IntronicSNV - 23/23
15-52724832-C-A MYO5A c.138+540G>T - IntronicSNV - 2/40
15-28328765-G-A OCA2 c.1-1745C>T - IntronicSNV - 1/23
3-148852455-G-T HPS3 c.217+4728G>T - IntronicSNV - 1/16
3-148885077-C-T HPS3 c.2796+50C>T - IntronicSNV - 15/16
15-28196821-T-C OCA2 c.1951+109A>G - IntronicSNV - 18/23
20-57478448-A-T GNAS c.258-138A>T - IntronicSNV - 3/12
3-148848073-C-T HPS3 c.217+346C>T - IntronicSNV - 1/16
15-28201001-T-C OCA2 c.1785-640A>G - IntronicSNV - 16/23
3-148848073-C-G HPS3 c.217+346C>G - IntronicSNV - 1/16
20-57478939-G-A GNAS c.432+93G>A - IntronicSNV - 5/12
11-88984984-C-T TYR c.1184+23846C>T - IntronicSNV - 3/4
3-148869309-G-A HPS3 c.1245+842G>A - IntronicSNV - 6/16
3-148869309-G-T HPS3 c.1245+842G>T - IntronicSNV - 6/16
3-148868161-C-G HPS3 c.1164-225C>G - IntronicSNV - 5/16
10-96797270-T-C CYP2C8 c.1292-204A>G - IntronicSNV - 8/8
17-66518663-A-G PRKAR1A c.178-234A>G - IntronicSNV - 3/11
15-28006306-C-T OCA2 c.2433-5688G>A - IntronicSNV - 23/23
15-28006306-C-A OCA2 c.2433-5688G>T - IntronicSNV - 23/23
15-28133374-C-T OCA2 c.2080-16306G>A - IntronicSNV - 19/23
6-15523448-G-A DTNBP1 c.814C>T p.Pro272Ser Missense 10/10 -
15-52813612-T-C MYO5A c.27+7365A>G - IntronicSNV - 1/40
15-28427986-T-A HERC2 c.8826-328A>T - IntronicSNV - 56/92
15-28044542-G-A OCA2 c.2433-43924C>T - IntronicSNV - 23/23
15-28082022-G-C OCA2 c.2432+8083C>G - IntronicSNV - 23/23
15-28082022-G-A OCA2 c.2432+8083C>T - IntronicSNV - 23/23
5-60188222-C-T ERCC8 c.844-1309G>A - IntronicSNV - 9/11
12-88947978-T-C KITLG c.16-8336A>G - IntronicSNV - 1/8
15-28288121-G-T OCA2 c.228-10812C>A - IntronicSNV - 2/23
15-52724832-C-G MYO5A c.138+540G>C - IntronicSNV - 2/40
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
15-28021888-G-A OCA2 c.2433-21270C>T - IntronicSNV - 23/23
15-52708000-G-C MYO5A c.612+342C>G - IntronicSNV - 5/40
16-89985177-C-T MC1R c.1-490C>T - 5-UTRSNV 1/1 -
15-28323770-A-G OCA2 c.227+3024T>C - IntronicSNV - 2/23
12-88961713-A-G KITLG c.15+12328T>C - IntronicSNV - 1/8
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
15-28294922-G-T OCA2 c.228-17613C>A - IntronicSNV - 2/23
15-28294922-G-A OCA2 c.228-17613C>T - IntronicSNV - 2/23
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
20-57480933-T-G GNAS c.530+398T>G - IntronicSNV - 6/12
20-57480933-T-C GNAS c.530+398T>C - IntronicSNV - 6/12
3-148867988-C-A HPS3 c.1164-398C>A - IntronicSNV - 5/16
22-26875370-C-T HPS4 c.42-49G>A - IntronicSNV - 2/13
15-52736744-A-C MYO5A c.28-11262T>G - IntronicSNV - 1/40
15-28186985-G-A OCA2 c.1951+9945C>T - IntronicSNV - 18/23
15-28186985-G-C OCA2 c.1951+9945C>G - IntronicSNV - 18/23
3-148874252-G-A HPS3 c.1510-885G>A - IntronicSNV - 8/16
15-28186015-C-T OCA2 c.1951+10915G>A - IntronicSNV - 18/23
3-148874252-G-T HPS3 c.1510-885G>T - IntronicSNV - 8/16
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
15-28272065-C-A OCA2 c.515+952G>T - IntronicSNV - 4/23
15-28266235-T-C OCA2 c.646+1412A>G - IntronicSNV - 6/23
3-148857251-C-T HPS3 c.218-540C>T - IntronicSNV - 1/16
15-28272065-C-T OCA2 c.515+952G>A - IntronicSNV - 4/23
12-88955469-G-C KITLG c.16-15827C>G - IntronicSNV - 1/8
10-50728371-C-A ERCC6 c.1397+3708G>T - IntronicSNV - 5/20
15-52726000-C-T MYO5A c.28-518G>A - IntronicSNV - 1/40
15-28030000-G-A OCA2 c.2433-29382C>T - IntronicSNV - 23/23
15-28009556-A-G OCA2 c.2433-8938T>C - IntronicSNV - 23/23
15-28001017-A-T OCA2 c.2433-399T>A - IntronicSNV - 23/23
15-28001017-A-C OCA2 c.2433-399T>G - IntronicSNV - 23/23
15-28286793-C-A OCA2 c.228-9484G>T - IntronicSNV - 2/23
12-88955469-G-A KITLG c.16-15827C>T - IntronicSNV - 1/8
6-15661461-C-T DTNBP1 c.56+1584G>A - IntronicSNV - 1/9
15-28003789-A-T OCA2 c.2433-3171T>A - IntronicSNV - 23/23
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28003789-A-G OCA2 c.2433-3171T>C - IntronicSNV - 23/23
4-55604940-G-A KIT c.*217G>A - 3-UTRSNV 21/21 -
15-28040757-A-G OCA2 c.2433-40139T>C - IntronicSNV - 23/23
15-28043390-T-C OCA2 c.2433-42772A>G - IntronicSNV - 23/23
15-52724832-C-T MYO5A c.138+540G>A - IntronicSNV - 2/40
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28453215-A-G HERC2 c.7070-1687T>C - IntronicSNV - 44/92
15-28386626-C-T HERC2 c.11967G>A p.Gln3989Gln Synonymous 78/93 -
9-12705162-C-T TYRP1 c.1261+457C>T - IntronicSNV - 6/7
15-28184527-C-A OCA2 c.1951+12403G>T - IntronicSNV - 18/23
20-57483655-T-C GNAS c.531-562T>C - IntronicSNV - 6/12
12-88947978-T-A KITLG c.16-8336A>T - IntronicSNV - 1/8
15-28186985-G-T OCA2 c.1951+9945C>A - IntronicSNV - 18/23