PMID: 20546537

Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

Pigment cell & melanoma research
MR Gerstenblith, J Shi, MT Landi
2010-10

57 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-68840160-A-G TPCN2 c.1127A>G p.Lys376Arg Missense 12/25 -
12-52913668-C-T KRT5 c.413G>A p.Gly138Glu Missense 1/9 -
15-28488888-T-C HERC2 c.3577+2139A>G - IntronicSNV - 23/92
15-28185038-G-A OCA2 c.1951+11892C>T - IntronicSNV - 18/23
15-28185038-G-C OCA2 c.1951+11892C>G - IntronicSNV - 18/23
20-33355046-G-A NCOA6 c.514+1221C>T - IntronicSNV - 5/14
20-32856998-A-G ASIP c.*25A>G - 3-UTRSNV 3/3 -
16-89795485-C-T ZNF276 c.861-158C>T - IntronicSNV - 5/10
9-21840298-A-G MTAP c.450+2289A>G - IntronicSNV - 5/7
20-33171772-G-A PIGU c.926+1469C>T - IntronicSNV - 9/11
16-89385561-C-T ANKRD11 c.1-2134G>A - IntronicSNV - 2/12
16-89836323-C-T FANCA c.2426G>A p.Gly809Asp Missense 26/43 -
11-68855363-G-A TPCN2 c.2201G>A p.Gly734Glu Missense 25/25 -
9-21816528-A-G MTAP c.121-185A>G - IntronicSNV - 2/7
11-88557991-A-G GRM5 c.911+25083T>C - IntronicSNV - 3/8
12-52912909-G-T KRT5 c.591C>A p.Asp197Glu Missense 2/9 -
12-52912909-G-C KRT5 c.591C>G p.Asp197Glu Missense 2/9 -
11-68828929-G-T TPCN2 c.547-1423G>T - IntronicSNV - 5/24
15-28515976-CAG-TTT HERC2 c.1120_1122delCTGinsTTT p.Leu374Phe Missense 10/93 -
16-89726484-G-A SPATA33 c.208+1655G>A - IntronicSNV - 2/2
16-89726484-G-T SPATA33 c.208+1655G>T - IntronicSNV - 2/2
16-90141477-T-G PRDM7 c.194-46A>C - IntronicSNV - 2/9
16-90141477-T-A PRDM7 c.194-46A>T - IntronicSNV - 2/9
16-89692298-A-T DPEP1 c.1-4521A>T - IntronicSNV - 1/10
16-89692298-A-G DPEP1 c.1-4521A>G - IntronicSNV - 1/10
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
16-89648580-C-T CPNE7 c.498-1272C>T - IntronicSNV - 3/16
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
5-33950703-A-G SLC45A2 c.1156+956T>C - IntronicSNV - 5/6
9-21806564-G-A MTAP c.33+3784G>A - IntronicSNV - 1/7
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
20-33171772-G-C PIGU c.926+1469C>G - IntronicSNV - 9/11
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
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
15-28516084-C-T HERC2 c.1084-70G>A - IntronicSNV - 9/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
20-31806588-T-C BPIFA3 c.127+1119T>C - IntronicSNV - 1/6
11-68828929-G-A TPCN2 c.547-1423G>A - IntronicSNV - 5/24
11-68846399-A-T TPCN2 c.1450A>T p.Met484Leu Missense 16/25 -
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
11-68846399-A-C TPCN2 c.1450A>C p.Met484Leu Missense 16/25 -
15-28365733-C-A HERC2 c.13272+759G>T - IntronicSNV - 86/92
16-90024202-G-A DEF8 c.555+134G>A - IntronicSNV - 5/12
1-17722363-G-A PADI6 c.1618+204G>A - intron_variant - 14/16
16-89656251-T-C CPNE7 c.1287-54T>C - IntronicSNV - 12/16
5-33986409-C-G AMACR c.*2789G>C - IntergenicSNV 5/5 -
22-38544298-A-G PLA2G6 c.210-2638T>C - IntronicSNV - 2/15
20-33576989-C-G MYH7B c.1714-554C>G - IntronicSNV - 19/44
5-33986409-C-T AMACR c.*2789G>A - IntergenicSNV 5/5 -
5-33955673-T-C SLC45A2 c.889-1064A>G - IntronicSNV - 3/6
6-542159-A-G EXOC2 c.2238+7016T>C - IntronicSNV - 22/27
15-28328765-G-A OCA2 c.1-1745C>T - IntronicSNV - 1/23
15-28199305-A-C OCA2 c.1842+999T>G - IntronicSNV - 17/23