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. 2020 Jul 23;21(12):841–851. doi: 10.2217/pgs-2020-0053

Table 2. . All variants included in genetic analysis.

Gene rs ID Chromosomal position Reference allele Variant type Reason for variant inclusion (candidate SNV, tag SNV, missense or functional) Corresponding genetic predictor
ARHGEF10 rs9657362 8:1833801 G Missense Candidate, missense 1, 2
  rs17683288 8:1877480 T Missense Candidate, missense 1, 2
  rs141069028 8:1851564 C Missense Missense 2
  rs2294039 8:1857591 G Missense Missense 2
  rs201516531 8:1905361 C Missense Missense 2
  rs887797448 8:1900880 G Missense Missense 2
  rs139515492 8:1905048 C Missense Missense 2
SBF2 rs117957652 11:9861208 C Missense Candidate 3
  rs7102464 11:9879838 T Missense Candidate 3
  rs59613534 11:9800552 C 3 prime UTR Functional (CADD: 19.22, GWAVA: 0.71) 4
  rs60154961 11:9800566 G 3 prime UTR Functional (CADD: 18.12, GWAVA: 0.67) 4
  rs360126 11:9800346 G 3 prime UTR Functional (CADD: 17.02, GWAVA: 0.68) 4
  rs360125 11:9800650 G 3 prime UTR Functional (CADD: 17.01, GWAVA: 0.63) 4
  rs1045634 11:9800450 T 3 prime UTR Functional (CADD: 15.01, GWAVA: 0.70) 4
  rs146366305 11:9989990 A Missense Functional (CADD: 25.3, PROVEAN: -2.53 4
FGD4 rs10844253 12:32764184 A Synonymous Tag SNV of rs10771973 (r2 = 0.92) 5
  rs11539445 12:32908237 A Regulatory Functional (CADD: 24.2, GWAVA: 0.50, GTEx p = 0.00012) 6
  rs10844308 12:32854366 C Regulatory Functional (CADD: 17.03, GWAVA: 0.54, GTEx p = 0.00012) Excluded due to LD
FZD3 rs7833751 8:28362792 G Intron Tag SNV of rs7001034 (r2 = 0.98) 7
NXN rs11247571 17:908502 G Regulatory Functional (CADD: 17.79, GWAVA: 0.51, GTEx p = 0.0000049) 8

Corresponding genetic predictor: the genetic predictor (Table 3) in which each SNV was included.

Variant excluded from analysis due to LD with rs11539445 (r2 = 0.93).

CADD: Combined annotation-dependent depletion; LD: Linkage disequilibrium.