| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1131692063 | 1.000 | 0.160 | MT | 13051 | missense variant | G/A | snv | 2 | |||
| rs387907087 | 0.925 | 11 | 126276476 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 2 | ||
| rs111033573 | 1.000 | 0.200 | 10 | 100989285 | missense variant | G/A;T | snv | 2 | |||
| rs111033577 | 1.000 | 0.200 | 10 | 100989352 | missense variant | T/C;G | snv | 2 | |||
| rs28937887 | 1.000 | 10 | 100989211 | missense variant | G/A;T | snv | 2 | ||||
| rs1556423547 | 1.000 | 0.120 | MT | 8839 | missense variant | G/A;C | snv | 2 | |||
| rs1569463838 | 1.000 | 22 | 42086238 | frameshift variant | CT/- | delins | 2 | ||||
| rs750830935 | 1.000 | 22 | 42087124 | missense variant | C/G;T | snv | 1.1E-04 | 1.4E-05 | 2 | ||
| rs758833609 | 1.000 | 22 | 42086305 | stop gained | C/A;T | snv | 8.0E-06; 4.4E-05 | 2 | |||
| rs387906899 | 1.000 | 3 | 193643609 | missense variant | A/G | snv | 2 | ||||
| rs144972972 | 1.000 | 6 | 151430154 | missense variant | T/C | snv | 2.0E-04 | 2.4E-04 | 2 | ||
| rs397515421 | 1.000 | 6 | 151405787 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 2 | ||
| rs515726199 | 1.000 | 0.200 | 8 | 102208239 | frameshift variant | A/- | delins | 2 | |||
| rs886041082 | 1.000 | 4 | 185145863 | missense variant | C/G | snv | 2 | ||||
| rs763006208 | 1.000 | 22 | 42086261 | frameshift variant | A/- | delins | 1.1E-04 | 2 | |||
| rs781099275 | 1.000 | 22 | 42086215 | frameshift variant | G/- | delins | 4.0E-06 | 2 | |||
| rs1023075742 | 1.000 | 22 | 42090742 | start lost | C/T | snv | 4.0E-06 | 2.1E-05 | 2 | ||
| rs369227537 | 1.000 | 0.080 | 16 | 89550502 | stop gained | A/T | snv | 1.4E-04 | 9.8E-05 | 2 | |
| rs797046003 | 1.000 | 0.080 | 16 | 89529575 | splice donor variant | -/T | delins | 2 | |||
| rs886037835 | 1.000 | 11 | 85635669 | frameshift variant | A/- | delins | 2 | ||||
| rs376902371 | 1.000 | 17 | 18308367 | missense variant | T/C | snv | 6.4E-05 | 3.5E-05 | 2 | ||
| rs199730889 | 1.000 | 3 | 101565323 | missense variant | G/A;T | snv | 4.0E-06; 1.1E-04 | 2 | |||
| rs875989831 | 1.000 | 3 | 101565595 | missense variant | A/G | snv | 2 | ||||
| rs1554887213 | 1.000 | 0.200 | 10 | 100989774 | splice acceptor variant | G/T | snv | 2 | |||
| rs1131692064 | MT | 7989 | missense variant | T/C | snv | 1 |