Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918549 | 0.882 | 0.080 | 12 | 53321423 | stop gained | G/A;T | snv | 4.0E-06; 1.8E-04 | 5 | ||
| rs121918550 | 1.000 | 0.080 | 12 | 53309624 | missense variant | A/G | snv | 1.2E-04 | 4.9E-05 | 5 | |
| rs1035139364 | 1.000 | 0.080 | 12 | 53308724 | splice donor variant | C/T | snv | 7.0E-06 | 1 | ||
| rs121918547 | 1.000 | 0.080 | 12 | 53309158 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 1 | ||
| rs121918548 | 1.000 | 0.080 | 12 | 53307698 | stop gained | G/A | snv | 4.0E-05 | 7.7E-05 | 1 | |
| rs121918551 | 0.882 | 0.200 | 12 | 53308095 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs150511103 | 1.000 | 0.080 | 12 | 53308051 | splice donor variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.8E-05 | 1 | ||
| rs1565781382 | 1.000 | 0.080 | 12 | 53315142 | splice acceptor variant | T/C | snv | 1 | |||
| rs387906326 | 1.000 | 0.080 | 12 | 53308975 | frameshift variant | -/A | delins | 1 | |||
| rs754637718 | 1.000 | 0.080 | 12 | 53320565 | stop gained | C/T | snv | 4.4E-05 | 2.8E-05 | 1 | |
| rs770214071 | 1.000 | 0.080 | 12 | 53308469 | frameshift variant | CAGA/- | delins | 2.8E-05 | 7.7E-05 | 1 | |
| rs773601814 | 1.000 | 0.080 | 12 | 53309018 | missense variant | A/G;T | snv | 4.0E-06 | 1 |