Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1143642 | 2 | 112830976 | intron variant | A/G | snv | 0.89 | 1 | ||||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs1143633 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 11 | |||
rs1143643 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 10 | ||
rs549858786 | 0.790 | 0.320 | 2 | 112836807 | 5 prime UTR variant | T/A | snv | 10 | |||
rs1143630 | 0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv | 5 | |||
rs3917356 | 0.882 | 0.160 | 2 | 112834786 | intron variant | C/T | snv | 0.39 | 4 | ||
rs1043973338 | 0.882 | 0.080 | 2 | 112830483 | missense variant | A/C | snv | 3 | |||
rs1143629 | 0.882 | 0.160 | 2 | 112835941 | intron variant | G/A | snv | 0.60 | 3 | ||
rs2853550 | 0.882 | 0.120 | 2 | 112829544 | downstream gene variant | A/G | snv | 0.83 | 3 | ||
rs1445888481 | 0.925 | 0.080 | 2 | 112835572 | synonymous variant | C/T | snv | 7.0E-06 | 2 | ||
rs3087258 | 0.925 | 0.080 | 2 | 112837294 | upstream gene variant | G/A | snv | 2 | |||
rs3136558 | 1.000 | 2 | 112833698 | intron variant | A/G | snv | 0.21 | 4 | |||
rs1143639 | 1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 | 2 | ||
rs772717932 | 1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 2 | ||
rs376289593 | 1.000 | 0.080 | 2 | 112836202 | missense variant | C/T | snv | 1.2E-04 | 4.9E-05 | 1 | |
rs538083388 | 1.000 | 0.080 | 2 | 112833516 | synonymous variant | G/A | snv | 2.2E-04 | 7.0E-05 | 1 | |
rs762704392 | 1.000 | 0.080 | 2 | 112836208 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 1 | |
rs868749744 | 1.000 | 0.120 | 2 | 112833417 | synonymous variant | C/T | snv | 1 |