Table 1

Melanoma loci identified through GWAS

GeneChromosome bandRegional peakORPigmentationNaeviReferences
ARNT, SETDB11q21rs124108690.88NoNo79
PARP11q42.12rs18585500.87NoNo79, 80
CYP1B12p22.2rs67500470.92NoNo73
CASP82q33.1rs75823620.89NoWeak/trend65
TERT5p15.33rs3802861.16NoYes65, 70, 77
SLC45A25p13.3–13.2rs2504172.44Yes, strongNo61, 63, 65, 70, 72
CDKAL16p22.3rs69145981.11NoNo73
AGR37p21.1rs16367441.11NoWeak/trend73
MTAP/CDKN2A9p21.3rs78524500.81NoWeak/trend14, 65, 70, 76
intergenic (TMEM38B)9q31.2rs107392210.89NoNo73
OBFC110q24.33rs29952640.87NoNo73
CCND111q13.3rs4981360.89NoNo65
TYR11q14.3rs13933501.22Yes, strongNo14, 66, 69, 70
ATM11q22.3rs730082290.83NoNo65
OCA2/HERC215q12–13.1rs47781380.84Yes, strongNo63, 67, 71–73
FTO16q12.2rs125966381.15NoYes78
MC1R16q24.3rs755706041.82Yes, strongNo14, 68, 70
ASIP20q11.22rs60596551.42Yes, strongNo14, 66, 69, 70, 74, 75
MX221q22.3rs4088251.15NoNo65
PLA2G622q13.1rs20921800.89YesYes14, 61, 65, 76
  • GWAS, genome-wide association studies.