PMID: 27499155

Genetic markers of pigmentation are novel risk loci for uveal melanoma.

Scientific reports
R Ferguson, M Vogelsang, E Ucisik-Akkaya, K Rai, R Pilarski, CN Martinez, J Rendleman, E Kazlow, K Nagdimov, I Osman, RJ Klein, FH Davidorf, CM Cebulla, MH Abdel-Rahman, T Kirchhoff
2016-08-08

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92