| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs114951157 | 1.000 | 0.080 | 12 | 43772968 | stop gained | C/T | snv | 1.6E-05 | 7.7E-05 | 1 | |
| rs121908002 | 1.000 | 0.080 | 12 | 43778238 | stop gained | C/T | snv | 2.3E-04 | 3.4E-04 | 1 | |
| rs1443126481 | 1.000 | 0.080 | 12 | 43768199 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs1555167566 | 1.000 | 0.080 | 12 | 43771279 | frameshift variant | G/- | delins | 1 | |||
| rs1555169270 | 1.000 | 0.080 | 12 | 43777629 | splice acceptor variant | G/T | snv | 1 | |||
| rs1565678077 | 1.000 | 0.080 | 12 | 43777734 | frameshift variant | T/- | del | 1 | |||
| rs377584435 | 1.000 | 0.080 | 12 | 43768145 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 1 | |
| rs758539498 | 1.000 | 0.080 | 12 | 43777749 | splice region variant | G/A;T | snv | 2.0E-05 | 1 |