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. Author manuscript; available in PMC: 2020 Oct 27.
Published in final edited form as: Nat Genet. 2020 Apr 27;52(5):494–504. doi: 10.1038/s41588-020-0611-8

Table 4.

Genes identified by TWAS outside of regions identified in the total cutaneous melanoma GWAS meta-analysis. For each gene with a Bonferroni-corrected P-value cutoff in melanocytes (PTWAS < 3.22 × 10−6), or skin-related tissue types (PTWAS < 5.28 × 10−7) that does not overlap with an existing cutaneous melanoma region we report the local peak cutaneous melanoma variant from the total confirmed plus self-report GWAS meta-analysis, and TWAS Z score. Full results for all genes with a PTWAS < 1.48 × 10−5 can be found in Supplementary Tables 10,12. CBWD1 and C9orf66 are within 1 Mb of each other and are merged into a single locus. * RP11-676J12.7 was identified using sun-exposed skin expression data from GTEx (Supplementary Table 12), while all other genes were identified using melanocyte gene expression.

TWAS Locus Peak CM Variant

Gene Z P rsID CHR:BP CM P
NIPAL3 4.84 1.28 × 10−6 rs2294524 1:24,770,594 2.74 × 10−7
RCAN3 4.83 1.33 × 10−6 rs2294524 1:24,770,594 2.74 × 10−7
NOTCH2 4.81 1.50 × 10−6 rs2793830 1:120,466,108 3.80 × 10−7
PTPN14 −4.84 1.30 × 10−6 rs6693492 1:214,685,978 2.68 × 10−5
CBWD1 −4.81 1.51 × 10−6 rs478882 9:205,964 1.64 × 10−6
C9orf66 5.05 4.48 × 10−7 rs478882 9:205,964 1.64 × 10−6
SYNE2 5.19 2.06 × 10−7 rs12881652 14:64,400,120 2.12 × 10−7
IRX6 −4.80 1.62 × 10−6 rs12919110 16:55,319,789 1.27 × 10−6
RP11-676J12.7* −5.55 2.79 × 10−8 rs1703824 17:813,324 1.59 × 10−5