| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1557569831 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 8 | |||
| rs746200792 | 0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins | 8 | |||
| rs104894697 | 1.000 | 0.120 | 19 | 17816972 | missense variant | G/A;C | snv | 3.5E-04; 4.0E-06 | 1 | ||
| rs104894698 | 1.000 | 0.120 | 19 | 17816946 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 1 | |
| rs121912555 | 1.000 | 0.120 | 19 | 17816920 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs121912556 | 1.000 | 0.120 | 19 | 17816945 | missense variant | C/T | snv | 6.9E-04 | 2.7E-04 | 1 | |
| rs121918303 | 1.000 | 0.120 | 13 | 31777398 | missense variant | A/C;G | snv | 4.6E-03; 4.0E-06 | 1 | ||
| rs1284683098 | 1.000 | 0.120 | 2 | 176093070 | synonymous variant | G/A | snv | 1 | |||
| rs1364038551 | 1.000 | 0.120 | X | 67546090 | missense variant | G/T | snv | 9.4E-06 | 1 | ||
| rs1386170575 | 1.000 | 0.120 | 19 | 35371534 | missense variant | G/A | snv | 3.7E-05 | 8.5E-05 | 1 | |
| rs398122886 | 1.000 | 0.120 | 19 | 17817033 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 1 | |
| rs570837260 | 1.000 | 0.120 | 19 | 17821391 | missense variant | A/C | snv | 7.3E-04 | 5.5E-04 | 1 | |
| rs776428407 | 1.000 | 0.120 | 7 | 27174194 | missense variant | C/A;T | snv | 4.3E-06; 4.3E-06 | 1 | ||
| rs1554199368 | 0.827 | 0.160 | 5 | 177256956 | missense variant | C/T | snv | 12 | |||
| rs1554846212 | 0.851 | 0.160 | 10 | 75030037 | missense variant | C/T | snv | 9 | |||
| rs1565573786 | 0.807 | 0.160 | 12 | 49091165 | stop gained | G/C;T | snv | 6 | |||
| rs2274911 | 0.851 | 0.160 | 6 | 116809541 | missense variant | G/A | snv | 0.72 | 0.74 | 6 | |
| rs554416372 | 0.827 | 0.160 | 11 | 32396397 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06; 9.6E-05 | 5 | ||
| rs1480612338 | 0.851 | 0.160 | 12 | 49090416 | missense variant | C/T | snv | 4.3E-06 | 4 | ||
| rs1020397 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 3 | |||
| rs2278705 | 0.882 | 0.160 | 15 | 80402288 | intron variant | C/T | snv | 4.2E-02 | 3 | ||
| rs2472680 | 0.882 | 0.160 | 3 | 119808929 | intron variant | T/C | snv | 0.90 | 3 | ||
| rs3757824 | 0.882 | 0.160 | 7 | 17296411 | non coding transcript exon variant | T/C;G | snv | 3 | |||
| rs5000770 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 3 | ||
| rs6932902 | 0.882 | 0.160 | 6 | 152055389 | intron variant | G/A | snv | 0.22 | 3 |