PMID: 29890168

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal of investigative dermatology
AE Cust, M Drummond, PA Kanetsky, , , AM Goldstein, JH Barrett, S MacGregor, MH Law, MM Iles, M Bui, JL Hopper, M Brossard, F Demenais, JC Taylor, C Hoggart, KM Brown, MT Landi, JA Newton-Bishop, GJ Mann, DT Bishop
2018-12

35 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-108175462-G-A ATM c.5557G>A p.Asp1853Asn Missense 37/63 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
16-54114824-G-A FTO c.1365-30850G>A - IntronicSNV - 8/8
5-1236690-T-C SLC6A18 c.621+913T>C - IntronicSNV - 4/11
9-21803880-C-A MTAP c.33+1100C>A - IntronicSNV - 1/7
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
6-21165278-G-A CDKAL1 c.1300-32974G>A - IntronicSNV - 13/15
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
1-226564691-T-C PARP1 c.1941+118A>G - IntronicSNV - 13/22
21-42653649-C-A BACE2 c.*6098C>A - 3-UTRSNV 9/9 -
5-1325767-A-G CLPTM1L c.1146+99T>C - IntronicSNV - 10/16
9-21971106-G-C CDKN2A c.252C>G p.Asp84Glu Missense 2/3 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
9-21971106-G-T CDKN2A c.252C>A p.Asp84Glu Missense 2/3 -
20-34094549-C-T CEP250 c.6637-1018C>T - IntronicSNV - 30/34
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
21-42746081-C-T MX2 c.1-2753C>T - IntronicSNV - 1/13
3-70014091-G-A MITF c.1255G>A p.Glu419Lys Missense 10/10 -
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
22-38563471-C-T PLA2G6 c.209+1754G>A - IntronicSNV - 2/15
6-21204822-T-C CDKAL1 c.1548+3317T>C - IntronicSNV - 15/15
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
10-105659826-T-A STN1 c.451A>T p.Thr151Ser Missense 5/10 -
20-34094549-C-A CEP250 c.6637-1018C>A - IntronicSNV - 30/34
10-105659826-T-C STN1 c.451A>G p.Thr151Ala Missense 5/10 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
2-38298150-A-G CYP1B1 c.1347T>C p.Asp449Asp Synonymous 3/3 -
2-38298150-A-T CYP1B1 c.1347T>A p.Asp449Glu Missense 3/3 -