PMID: 33318654

Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications biology
E Jorgenson, H Choquet, J Yin, TJ Hoffmann, Y Banda, MN Kvale, N Risch, C Schaefer, MM Asgari
2020-12-14

31 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
20-32665748-A-G RALY c.829-563A>G - IntronicSNV - 7/8
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
9-139356987-T-C SEC16A c.4893+352A>G - IntronicSNV - 12/31
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
18-61328340-TGC-TTT SERPINB3 c.109_111delGCAinsTTT p.Ala37Phe Missense 2/8 -
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-89984378-C-T MC1R c.1-1289C>T - 5-UTRSNV 1/1 -
16-90026512-T-C DEF8 c.698-827T>C - IntronicSNV - 6/12
15-28410491-C-T HERC2 c.10555-2060G>A - IntronicSNV - 68/92
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
5-33946571-A-G SLC45A2 c.1368+697T>C - IntronicSNV - 6/6
9-12709305-C-A TYRP1 c.*123C>A - 3-UTRSNV 8/8 -
5-33946571-A-C SLC45A2 c.1368+697T>G - IntronicSNV - 6/6
16-89985997-G-A MC1R c.331G>A p.Ala111Thr Missense 1/1 -
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
16-90024206-A-G DEF8 c.555+138A>G - IntronicSNV - 5/12
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -