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