Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 11 | |
| rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 9 | |
| rs140342925 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 5 | |
| rs372267274 | 0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv | 5 | |||
| rs587778536 | 0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 | 4 | |
| rs587780078 | 0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 | 4 | |
| rs121908380 | 0.882 | 0.160 | 1 | 45333449 | stop gained | G/A;T | snv | 1.4E-03; 1.2E-04 | 3 | ||
| rs138775799 | 0.925 | 0.120 | 1 | 45333472 | stop gained | G/A | snv | 1.2E-05 | 3.5E-05 | 3 | |
| rs143353451 | 0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 3 | ||
| rs200495564 | 0.925 | 0.120 | 1 | 45332446 | missense variant | G/A | snv | 5.6E-05 | 2.8E-05 | 3 | |
| rs376790729 | 0.925 | 0.120 | 1 | 45331223 | stop gained | C/A;T | snv | 4.0E-06; 3.6E-05 | 3 | ||
| rs587778541 | 0.925 | 0.120 | 1 | 45331219 | inframe deletion | CCT/- | delins | 9.5E-05 | 2.8E-05 | 3 | |
| rs587780082 | 0.925 | 0.120 | 1 | 45331835 | stop gained | G/A | snv | 8.2E-05 | 3.5E-05 | 3 | |
| rs587780751 | 0.925 | 0.120 | 1 | 45332163 | splice region variant | T/G | snv | 7.6E-05 | 1.3E-04 | 3 | |
| rs587782228 | 0.882 | 0.120 | 1 | 45330557 | missense variant | C/A;T | snv | 4.2E-06; 4.2E-06 | 3 | ||
| rs730881833 | 0.827 | 0.160 | 1 | 45332242 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 3 | ||
| rs746449748 | 0.925 | 0.120 | 1 | 45333561 | splice acceptor variant | C/- | delins | 1.6E-05 | 3 | ||
| rs765123255 | 0.851 | 0.120 | 1 | 45333436 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 3 | |
| rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 2 | ||
| rs1060501335 | 0.925 | 0.120 | 1 | 45331684 | missense variant | A/G | snv | 2 | |||
| rs587781295 | 1.000 | 0.080 | 1 | 45333166 | stop gained | C/T | snv | 2 | |||
| rs730881832 | 0.925 | 0.120 | 1 | 45333168 | missense variant | A/T | snv | 4.0E-06 | 2 | ||
| rs888691362 | 0.925 | 0.160 | 1 | 45333423 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
| rs1553129062 | 1.000 | 0.080 | 1 | 45332831 | frameshift variant | C/- | delins | 1 | |||
| rs200844166 | 0.882 | 0.160 | 1 | 45331240 | missense variant | G/T | snv | 2.4E-05 | 5.6E-05 | 1 |