Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121964896 | 1.000 | 0.200 | 1 | 119422243 | missense variant | GT/AA | mnv | 1 | |||
| rs121964897 | 1.000 | 0.200 | 1 | 119422523 | missense variant | C/T | snv | 1 | |||
| rs28934880 | 1.000 | 0.200 | 1 | 119415448 | missense variant | C/A;T | snv | 1.2E-05; 4.0E-06 | 1 | ||
| rs767128094 | 1.000 | 0.200 | 1 | 119422565 | stop gained | G/A | snv | 8.0E-06 | 1 | ||
| rs80358216 | 1.000 | 0.200 | 1 | 119422013 | stop gained | G/A | snv | 1 | |||
| rs80358218 | 1.000 | 0.200 | 1 | 119422620 | stop lost | A/C;G | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs80358219 | 1.000 | 0.200 | 1 | 119421925 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 1 | ||
| rs80358220 | 1.000 | 0.200 | 1 | 119422165 | missense variant | C/A;G | snv | 4.0E-06 | 1 | ||
| rs80358221 | 1.000 | 0.200 | 1 | 119422277 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 |