PMID: 30531825

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Nature communications
MD Morgan, E Pairo-Castineira, K Rawlik, O Canela-Xandri, J Rees, D Sims, A Tenesa, IJ Jackson
2018-12-10

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986583-G-A MC1R c.917G>A p.Arg306His Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
17-79612397-A-T TSPAN10 c.416A>T p.Tyr139Phe Missense 2/4 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
20-32665748-A-G RALY c.829-563A>G - IntronicSNV - 7/8
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
9-12695672-C-CC TYRP1 c.543dupC p.Ile182Hisfs*5 Frameshift 3/8 -
17-79612397-A-G TSPAN10 c.416A>G p.Tyr139Cys Missense 2/4 -
16-89986203-C-CC MC1R c.537dupC p.Ile180Hisfs*59 Frameshift 1/1 -
16-89985131-C-T MC1R c.1-536C>T - 5-UTRSNV 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -