| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918312 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 11 | |||
| rs730880492 | 1.000 | 0.160 | X | 120447993 | frameshift variant | -/TGTTG | delins | 5.5E-06; 5.5E-06 | 2 | ||
| rs1554398705 | 7 | 128842906 | frameshift variant | -/C | delins | 1 | |||||
| rs386134209 | 1.000 | 0.160 | 5 | 132387039 | frameshift variant | C/-;CC | delins | 7.0E-06 | 2 | ||
| rs28383481 | 1.000 | 0.160 | 5 | 132393688 | missense variant | G/A | snv | 3.2E-03 | 3.4E-03 | 2 | |
| rs147435491 | 1.000 | 0.080 | 9 | 133730099 | missense variant | C/T | snv | 6.4E-05 | 7.0E-05 | 2 | |
| rs778127887 | 3 | 14141613 | stop gained | C/T | snv | 1.6E-05 | 3.5E-05 | 1 | |||
| rs63750743 | 0.925 | 0.080 | 3 | 14141665 | missense variant | C/T | snv | 4 | |||
| rs768021558 | 5 | 141625741 | missense variant | C/G | snv | 4.0E-06 | 1 | ||||
| rs74315323 | 0.882 | 0.080 | 1 | 146018399 | missense variant | C/A | snv | 1.7E-04 | 2.7E-04 | 4 | |
| rs143137713 | 0.925 | 3 | 148996462 | missense variant | G/C | snv | 1.0E-03 | 1.1E-03 | 3 | ||
| rs1057518422 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 7 | |||
| rs121908989 | 0.882 | 0.080 | 7 | 151564199 | missense variant | T/A;C | snv | 4.0E-06 | 4 | ||
| rs267606976 | 1.000 | 0.080 | 7 | 151564203 | missense variant | A/G | snv | 2 | |||
| rs121908987 | 0.742 | 0.200 | 7 | 151576412 | missense variant | C/A;G;T | snv | 4.0E-06 | 12 | ||
| rs193922697 | 1.000 | 0.040 | 7 | 151576438 | missense variant | G/A;T | snv | 1.6E-05 | 2 | ||
| rs41518645 | 0.925 | 0.200 | MT | 15257 | missense variant | G/A | snv | 3 | |||
| rs1057517686 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 7 | |||
| rs267606782 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 4 | |||
| rs782222974 | X | 154379710 | stop gained | G/A;T | snv | 2.3E-05; 1.1E-05 | 1 | ||||
| rs2070818 | X | 154380798 | missense variant | G/C | snv | 4.6E-04 | 2.1E-04 | 1 | |||
| rs148515772 | X | 154380902 | missense variant | G/A | snv | 8.2E-05 | 8.5E-05 | 1 | |||
| rs1569552936 | X | 154420249 | frameshift variant | C/- | delins | 1 | |||||
| rs1057518905 | 1 | 155140104 | missense variant | A/T | snv | 3 | |||||
| rs56793579 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 5 |