Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs28935197 | 0.776 | 0.280 | X | 101398942 | missense variant | T/C | snv | 5.5E-06 | 2 | ||
| rs104894845 | 0.807 | 0.160 | X | 101401752 | missense variant | C/G;T | snv | 5.5E-04 | 2 | ||
| rs104894828 | 0.882 | 0.160 | X | 101398467 | missense variant | C/A;T | snv | 3 | |||
| rs398123226 | 0.882 | 0.160 | X | 101398403 | missense variant | G/C;T | snv | 1 | |||
| rs199473684 | 0.925 | 0.160 | X | 101399747 | 3 prime UTR variant | C/T | snv | 3 | |||
| rs727504348 | 0.925 | 0.160 | X | 101397982 | missense variant | C/T | snv | 2 | |||
| rs104894830 | 0.925 | 0.160 | X | 101398483 | missense variant | T/C | snv | 1 | |||
| rs104894846 | 0.925 | 0.160 | X | 101398481 | missense variant | C/T | snv | 1 | |||
| rs104894847 | 0.925 | 0.160 | X | 101407846 | missense variant | C/G | snv | 1 | |||
| rs104894851 | 0.925 | 0.200 | X | 101398920 | stop gained | G/T | snv | 1 | |||
| rs104894852 | 0.925 | 0.200 | X | 101397871 | missense variant | T/C | snv | 1 | |||
| rs148158093 | 0.925 | 0.200 | X | 101403828 | missense variant | G/A | snv | 2.2E-04 | 4.0E-04 | 1 | |
| rs28935195 | 0.925 | 0.200 | X | 101401713 | missense variant | C/T | snv | 1 | |||
| rs28935485 | 0.925 | 0.160 | X | 101398534 | missense variant | G/C | snv | 1 | |||
| rs397515870 | 1.000 | 0.160 | X | 101400692 | missense variant | G/C;T | snv | 2 | |||
| rs104894827 | 1.000 | 0.160 | X | 101398033 | missense variant | G/A | snv | 1 | |||
| rs104894829 | 1.000 | 0.160 | X | 101407773 | stop gained | C/T | snv | 1 | |||
| rs104894831 | 1.000 | 0.160 | X | 101407786 | missense variant | G/A | snv | 1 | |||
| rs104894832 | 1.000 | 0.160 | X | 101398387 | missense variant | C/G;T | snv | 1 | |||
| rs104894834 | 1.000 | 0.160 | X | 101403846 | missense variant | G/A | snv | 1 | |||
| rs104894835 | 1.000 | 0.160 | X | 101407803 | missense variant | T/C | snv | 1 | |||
| rs104894836 | 1.000 | 0.160 | X | 101407738 | missense variant | A/C | snv | 1 | |||
| rs104894837 | 1.000 | 0.160 | X | 101401743 | missense variant | G/A | snv | 1 | |||
| rs104894838 | 1.000 | 0.160 | X | 101400699 | missense variant | A/C | snv | 1 | |||
| rs104894839 | 1.000 | 0.160 | X | 101398508 | stop gained | C/A;T | snv | 1 |