PMID: 19863770

Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies.

Genome medicine
D Udayakumar, H Tsao
2009-10-27

20 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
22-38563471-C-T PLA2G6 c.209+1754G>A - IntronicSNV - 2/15
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
12-52913668-C-T KRT5 c.413G>A p.Gly138Glu Missense 1/9 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
11-68855363-G-A TPCN2 c.2201G>A p.Gly734Glu Missense 25/25 -
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
9-21816528-A-G MTAP c.121-185A>G - IntronicSNV - 2/7
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
11-68846399-A-C TPCN2 c.1450A>C p.Met484Leu Missense 16/25 -
11-68846399-A-T TPCN2 c.1450A>T p.Met484Leu Missense 16/25 -
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
22-38544298-A-G PLA2G6 c.210-2638T>C - IntronicSNV - 2/15