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

50 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-226564691-T-C PARP1 c.1941+118A>G - IntronicSNV - 13/22
15-28182715-C-T OCA2 c.1952-11315G>A - IntronicSNV - 18/23
20-32588095-T-C RALY c.-93+6158T>C - intron_variant - 1/8
20-32588095-T-G RALY c.-93+6158T>G - intron_variant - 1/8
9-21816528-A-G MTAP c.121-185A>G - IntronicSNV - 2/7
15-28538411-G-A HERC2 c.188-243C>T - IntronicSNV - 3/92
15-28530359-G-A HERC2 c.323-4926C>T - IntronicSNV - 4/92
15-28182715-C-G OCA2 c.1952-11315G>C - IntronicSNV - 18/23
11-68828929-G-T TPCN2 c.547-1423G>T - IntronicSNV - 5/24
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
15-28475936-A-T HERC2 c.4676-290T>A - IntronicSNV - 30/92
5-1322087-C-T CLPTM1L c.1316-153G>A - IntronicSNV - 13/16
13-100020212-G-A UBAC2 c.822+52G>A - IntronicSNV - 6/6
21-42746081-C-T MX2 c.1-2753C>T - IntronicSNV - 1/13
15-28186985-G-A OCA2 c.1951+9945C>T - IntronicSNV - 18/23
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
15-28186985-G-C OCA2 c.1951+9945C>G - IntronicSNV - 18/23
11-88930377-A-G TYR c.1036+5791A>G - IntronicSNV - 2/4
15-28494032-G-A HERC2 c.3051-150C>T - IntronicSNV - 20/92
1-226561064-C-A PARP1 c.2070+863G>T - IntronicSNV - 14/22
15-28529071-G-T HERC2 c.323-3638C>A - IntronicSNV - 4/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
1-226561064-C-T PARP1 c.2070+863G>A - IntronicSNV - 14/22
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28386626-C-T HERC2 c.11967G>A p.Gln3989Gln Synonymous 78/93 -
22-38545619-A-G PLA2G6 c.210-3959T>C - IntronicSNV - 2/15
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
20-33171772-G-C PIGU c.926+1469C>G - IntronicSNV - 9/11
15-28186985-G-T OCA2 c.1951+9945C>A - IntronicSNV - 18/23
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
11-68828929-G-A TPCN2 c.547-1423G>A - IntronicSNV - 5/24
15-28180137-C-T OCA2 c.1952-8737G>A - IntronicSNV - 18/23
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
15-28536119-C-G HERC2 c.322+1915G>C - IntronicSNV - 4/92
20-32622608-A-G RALY c.-10+3198A>G - intron_variant - 2/8
15-28455749-C-A HERC2 c.7069+399G>T - IntronicSNV - 44/92
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
22-38544298-A-G PLA2G6 c.210-2638T>C - IntronicSNV - 2/15
15-28455749-C-G HERC2 c.7069+399G>C - IntronicSNV - 44/92
20-33171772-G-A PIGU c.926+1469C>T - IntronicSNV - 9/11
11-68840160-A-G TPCN2 c.1127A>G p.Lys376Arg Missense 12/25 -
15-28488888-T-C HERC2 c.3577+2139A>G - IntronicSNV - 23/92
5-1320247-G-A CLPTM1L c.1532+484C>T - IntronicSNV - 16/16
15-28185038-G-A OCA2 c.1951+11892C>T - IntronicSNV - 18/23
15-28185038-G-C OCA2 c.1951+11892C>G - IntronicSNV - 18/23
15-28538411-G-C HERC2 c.188-243C>G - IntronicSNV - 3/92