PMID: 23100201

A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model.

Croatian medical journal
V Kastelic, K Drobnic
2012-10

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28200408-T-C OCA2 c.1785-47A>G - IntronicSNV - 16/23
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
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 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -