PMID: 26286644

The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population.

European journal of human genetics : EJHG
A Caliebe, M Harder, R Schuett, M Krawczak, A Nebel, N von Wurmb-Schwark
2016-05

28 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
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 -
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
9-12709305-C-A TYRP1 c.*123C>A - 3-UTRSNV 8/8 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
14-92801203-G-A SLC24A4 c.241+8881G>A - IntronicSNV - 2/16
15-28338713-A-C OCA2 c.-22+5657T>G - intron_variant - 1/23
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 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -