| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
| rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
| rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
| rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
| rs121913616 | 0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv | 8 | |||
| rs121913614 | 0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv | 7 | |||
| rs750046020 | 0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 | 6 | ||
| rs1057520016 | 0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv | 5 | |||
| rs28928907 | 0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 | 4 | ||
| rs562533120 | 0.882 | 0.080 | 6 | 134966397 | missense variant | A/C | snv | 8.0E-06 | 3 | ||
| rs121913454 | 0.925 | 0.080 | 9 | 130874969 | missense variant | A/G | snv | 2 | |||
| rs1343123940 | 0.925 | 0.080 | 1 | 43339292 | frameshift variant | T/- | del | 4.0E-06 | 2 | ||
| rs3808850 | 0.925 | 0.080 | 9 | 4983311 | upstream gene variant | T/A;C | snv | 2 | |||
| rs1268279596 | 1.000 | 0.040 | 1 | 15495419 | missense variant | G/A | snv | 8.5E-06 | 1 | ||
| rs552479055 | 1.000 | 0.040 | 10 | 113726306 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs770166362 | 1.000 | 0.040 | 1 | 43349298 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs918140013 | 0.925 | 0.080 | 12 | 111447663 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
| rs746364606 | 1.000 | 0.040 | 3 | 184372642 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs587778514 | 0.925 | 0.080 | 1 | 43338564 | frameshift variant | CT/- | del | 5.2E-05 | 4.9E-05 | 2 | |
| rs146249964 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 5 | |
| rs148431413 | 1.000 | 0.040 | 2 | 1496134 | missense variant | T/G | snv | 6.0E-05 | 2.2E-04 | 1 | |
| rs201478192 | 0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 | 12 | |
| rs141311765 | 1.000 | 0.040 | 1 | 43340027 | missense variant | T/C | snv | 3.4E-04 | 1.2E-03 | 1 |