PMID: 28819144

Predicting hair cortisol levels with hair pigmentation genes: a possible hair pigmentation bias.

Scientific reports
A Neumann, G Noppe, F Liu, M Kayser, FC Verhulst, VWV Jaddoe, EFC van Rossum, H Tiemeier
2017-08-17

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln 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 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 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 -
20-33218090-G-A PIGU c.529+4329C>T - IntronicSNV - 6/11
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
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
14-92801203-G-A SLC24A4 c.241+8881G>A - IntronicSNV - 2/16
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
9-12709305-C-A TYRP1 c.*123C>A - 3-UTRSNV 8/8 -
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4