| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs398122821 | 1.000 | 0.160 | 21 | 46125501 | inframe deletion | TCATCG/- | delins | 1 | |||
| rs748035948 | 1.000 | 0.160 | 21 | 46125265 | splice acceptor variant | G/T | snv | 1 | |||
| rs75120695 | 1.000 | 0.160 | 21 | 46126166 | missense variant | G/A;C | snv | 4.4E-03 | 1 | ||
| rs112638391 | 1.000 | 0.160 | 2 | 237374900 | missense variant | C/T | snv | 3.0E-03 | 3.0E-03 | 1 | |
| rs121434554 | 1.000 | 0.160 | 2 | 237381419 | stop gained | G/A | snv | 1 | |||
| rs771941724 | 1.000 | 0.160 | 2 | 237363366 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs778940391 | 1.000 | 0.160 | 2 | 237367167 | missense variant | C/T | snv | 1.6E-04 | 9.1E-05 | 1 | |
| rs80272723 | 1.000 | 0.160 | 2 | 237371833 | missense variant | C/A;T | snv | 1.0E-02 | 1 | ||
| rs886043113 | 1.000 | 0.160 | 2 | 237347812 | stop gained | G/A | snv | 4.1E-06 | 1 |