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.