Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs878853249 | 1.000 | 0.160 | 5 | 132385334 | stop gained | A/T | snv | 1 | |||
| rs878853248 | 1.000 | 0.160 | 5 | 132392527 | frameshift variant | -/C | delins | 1 | |||
| rs796052033 | 1.000 | 0.160 | 5 | 132384263 | missense variant | T/A;G | snv | 1 | |||
| rs781330134 | 1.000 | 0.160 | 5 | 132390886 | frameshift variant | -/T | delins | 1.4E-05 | 1 | ||
| rs777004046 | 1.000 | 0.160 | 5 | 132390688 | splice acceptor variant | A/C;G | snv | 3.6E-05; 4.0E-06 | 1 | ||
| rs775502377 | 1.000 | 0.160 | 5 | 132370043 | frameshift variant | T/- | del | 8.0E-06 | 1.4E-05 | 1 | |
| rs775097754 | 1.000 | 0.160 | 5 | 132378362 | intron variant | T/A | snv | 4.0E-05 | 1.4E-05 | 1 | |
| rs774971089 | 1.000 | 0.160 | 5 | 132369973 | start lost | A/G;T | snv | 1 | |||
| rs766398620 | 1.000 | 0.160 | 5 | 132394184 | splice acceptor variant | G/C | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs763224132 | 1.000 | 0.160 | 5 | 132393683 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
| rs762986044 | 1.000 | 0.160 | 5 | 132370106 | frameshift variant | C/- | delins | 1 | |||
| rs761090705 | 1.000 | 0.160 | 5 | 132393769 | frameshift variant | C/-;CC | delins | 1 | |||
| rs749282641 | 1.000 | 0.160 | 5 | 132392576 | missense variant | C/A;T | snv | 8.0E-06 | 1 | ||
| rs747592919 | 1.000 | 0.160 | 5 | 132384146 | splice acceptor variant | G/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs727504159 | 1.000 | 0.160 | 5 | 132370310 | missense variant | G/A | snv | 1.3E-05 | 1 | ||
| rs72552735 | 1.000 | 0.160 | 5 | 132392598 | missense variant | C/T | snv | 1 | |||
| rs72552734 | 1.000 | 0.160 | 5 | 132392519 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 1 | |
| rs72552732 | 1.000 | 0.160 | 5 | 132392484 | missense variant | C/T | snv | 1.2E-05 | 4.2E-05 | 1 | |
| rs72552727 | 1.000 | 0.160 | 5 | 132378380 | stop gained | G/A | snv | 8.0E-06 | 1 | ||
| rs72552726 | 1.000 | 0.160 | 5 | 132370220 | missense variant | G/T | snv | 2.7E-04 | 3.5E-05 | 1 | |
| rs72552725 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 1 | |
| rs72552722 | 1.000 | 0.160 | 5 | 132369984 | stop gained | C/G | snv | 8.0E-06 | 1 | ||
| rs68018207 | 1.000 | 0.160 | 5 | 132389020 | stop lost | T/C | snv | 1 | |||
| rs60376624 | 1.000 | 0.160 | 5 | 132392565 | missense variant | C/G | snv | 1.7E-04 | 8.4E-05 | 1 | |
| rs386134227 | 1.000 | 0.160 | 5 | 132370120 | frameshift variant | T/- | del | 1 |