| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs527236163 | 1.000 | 0.120 | MT | 14784 | missense variant | T/C | snv | 1 | |||
| rs527236171 | 1.000 | 0.120 | MT | 15058 | synonymous variant | C/T | snv | 1 | |||
| rs527236205 | 1.000 | 0.120 | MT | 15061 | synonymous variant | A/G | snv | 1 | |||
| rs12117623 | 1.000 | 0.120 | 1 | 172072640 | intron variant | C/A | snv | 0.25 | 1 | ||
| rs1566761441 | 1.000 | 0.120 | 14 | 45175098 | stop gained | G/T | snv | 1 | |||
| rs1566764032 | 1.000 | 0.120 | 14 | 45175902 | stop gained | G/T | snv | 1 | |||
| rs1566766719 | 1.000 | 0.120 | 14 | 45176757 | frameshift variant | -/G | ins | 1 | |||
| rs1566775496 | 1.000 | 0.120 | 14 | 45183775 | stop gained | C/G | snv | 1 | |||
| rs1558661873 | 1.000 | 0.120 | 2 | 47799474 | frameshift variant | AAAGATGGCACATATATCCAAGTATGATA/- | del | 1 | |||
| rs150303591 | 1.000 | 0.120 | 4 | 78088155 | intron variant | C/T | snv | 0.80 | 1 | ||
| rs6456822 | 1.000 | 0.120 | 6 | 28512858 | intron variant | T/C | snv | 0.41 | 1 | ||
| rs185652178 | 1.000 | 0.120 | 5 | 147579243 | intron variant | C/T | snv | 2.2E-03 | 1 | ||
| rs11973028 | 1.000 | 0.120 | 7 | 27853217 | intron variant | C/T | snv | 0.44 | 1 | ||
| rs1934363 | 1.000 | 0.120 | 10 | 28484549 | intron variant | G/C | snv | 0.18 | 1 | ||
| rs1791890 | 1.000 | 0.120 | 11 | 116120763 | intergenic variant | A/G | snv | 0.44 | 1 | ||
| rs10858374 | 1.000 | 0.120 | 9 | 135247660 | intron variant | T/C | snv | 0.37 | 1 | ||
| rs1561193071 | 1.000 | 0.120 | 5 | 56872015 | frameshift variant | C/- | delins | 1 | |||
| rs1561198459 | 1.000 | 0.120 | 5 | 56880734 | stop gained | C/G | snv | 1 | |||
| rs1561199329 | 1.000 | 0.120 | 5 | 56881709 | inframe deletion | TTAGAAATGCTG/- | delins | 1 | |||
| rs1561199493 | 1.000 | 0.120 | 5 | 56881824 | frameshift variant | CTTTGGATGGTCAACA/- | delins | 1 | |||
| rs1561204571 | 1.000 | 0.120 | 5 | 56888336 | frameshift variant | CATCT/- | delins | 1 | |||
| rs3842595 | 1.000 | 0.120 | 5 | 122442912 | intron variant | A/-;AA;AAA | delins | 1 | |||
| rs1558521605 | 1.000 | 0.120 | 2 | 47478328 | stop gained | -/GTAG | ins | 1 | |||
| rs1558656674 | 1.000 | 0.120 | 2 | 47796010 | inframe deletion | AATTGGCAG/- | delins | 1 | |||
| rs1558664251 | 1.000 | 0.120 | 2 | 47800084 | frameshift variant | -/C | ins | 1 |