| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1567177198 | 1.000 | 0.120 | 15 | 74181302 | frameshift variant | -/A | delins | 1 | |||
| rs606231127 | 1.000 | 0.120 | 15 | 74195371 | frameshift variant | -/C | delins | 4.0E-06; 8.0E-06; 4.0E-06 | 1 | ||
| rs1374154597 | 1.000 | 0.120 | 3 | 136023097 | frameshift variant | -/G | delins | 2 | |||
| rs1555457919 | 1.000 | 0.120 | 15 | 74202231 | frameshift variant | -/G;GG | delins | 1 | |||
| rs1228616597 | 1.000 | 0.120 | 14 | 105168394 | frameshift variant | A/- | delins | 1 | |||
| rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 5 | |||
| rs2242241 | 0.925 | 0.200 | 8 | 21909370 | missense variant | A/C | snv | 1.0E-02 | 7.9E-03 | 2 | |
| rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
| rs766356689 | 1.000 | 0.120 | 8 | 42316740 | missense variant | A/C;G | snv | 4.0E-05; 4.0E-06 | 1 | ||
| rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
| rs746284240 | 0.763 | 0.240 | 12 | 68809243 | missense variant | A/G | snv | 11 | |||
| rs1430452530 | 0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
| rs11845046 | 1.000 | 0.120 | 14 | 39246997 | missense variant | A/G | snv | 0.22 | 0.20 | 2 | |
| rs1430937516 | 1.000 | 0.120 | 7 | 76510939 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
| rs7675998 | 0.827 | 0.360 | 4 | 163086668 | intergenic variant | A/G;T | snv | 5 | |||
| rs11571833 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 43 | |
| rs606231126 | 1.000 | 0.120 | 15 | 74202216 | frameshift variant | AGT/GG | delins | 1.6E-05 | 1 | ||
| rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
| rs9420907 | 0.790 | 0.320 | 10 | 103916707 | intron variant | C/A;G | snv | 7 | |||
| rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
| rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
| rs144691445 | 1.000 | 0.120 | 15 | 74180171 | missense variant | C/A;G;T | snv | 1.6E-05 | 1 | ||
| rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 | ||
| rs1444669684 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 36 | |||
| rs80358972 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 12 |