Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
| rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
| rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
| rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
| rs5050 | 0.827 | 0.200 | 1 | 230714140 | intron variant | T/C;G | snv | 7 | |||
| rs2004776 | 1 | 230712956 | intron variant | C/G;T | snv | 5 | |||||
| rs2067853 | 0.851 | 0.160 | 1 | 230702512 | downstream gene variant | G/A | snv | 0.25 | 5 | ||
| rs3789678 | 1.000 | 0.040 | 1 | 230713736 | intron variant | C/T | snv | 0.15 | 5 | ||
| rs5051 | 0.882 | 0.160 | 1 | 230714126 | intron variant | C/A;G;T | snv | 5 | |||
| rs2493134 | 1 | 230713613 | intron variant | T/C | snv | 0.57 | 4 | ||||
| rs3789679 | 0.925 | 0.120 | 1 | 230713948 | intron variant | G/A;T | snv | 4 | |||
| rs762079672 | 0.882 | 0.040 | 1 | 230710211 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
| rs148446907 | 0.925 | 0.080 | 1 | 230710026 | synonymous variant | G/A;C | snv | 1.2E-05 | 3 | ||
| rs5049 | 1.000 | 0.040 | 1 | 230714337 | intron variant | C/T | snv | 0.16 | 3 | ||
| rs7539020 | 1.000 | 0.040 | 1 | 230713444 | intron variant | C/T | snv | 0.43 | 3 | ||
| rs11122577 | 1.000 | 0.120 | 1 | 230711810 | intron variant | C/A | snv | 0.19 | 2 | ||
| rs2148582 | 1 | 230714053 | intron variant | A/G | snv | 0.58 | 2 | ||||
| rs3889728 | 1.000 | 0.120 | 1 | 230713085 | intron variant | C/T | snv | 0.24 | 2 | ||
| rs1078499 | 1 | 230713350 | intron variant | A/G | snv | 0.30 | 1 | ||||
| rs2493132 | 1 | 230707811 | intron variant | T/C;G | snv | 1 | |||||
| rs7079 | 1 | 230702585 | 3 prime UTR variant | G/T | snv | 0.25 | 1 |