Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs869312153 | 1.000 | 0.160 | X | 101398825 | missense variant | A/G | snv | 1 | |||
| rs869312154 | 1.000 | 0.160 | X | 101398802 | missense variant | A/G | snv | 1 | |||
| rs104894849 | 1.000 | 0.160 | X | 101398004 | stop gained | A/G;T | snv | 5.5E-06 | 1 | ||
| rs869312141 | 1.000 | 0.160 | X | 101403908 | missense variant | A/G;T | snv | 1 | |||
| rs869312142 | 1.000 | 0.160 | X | 101403843 | missense variant | A/G;T | snv | 1 | |||
| rs1057519609 | 1.000 | 0.160 | X | 101397950 | inframe deletion | AAG/- | delins | 1 | |||
| rs869312316 | 1.000 | 0.160 | X | 101407850 | frameshift variant | AAGCG/- | delins | 1 | |||
| rs1555984840 | 1.000 | 0.160 | X | 101398043 | frameshift variant | AG/- | del | 1 | |||
| rs398123198 | 1.000 | 0.160 | X | 101398065 | frameshift variant | AG/- | delins | 1 | |||
| rs797044777 | 1.000 | 0.160 | X | 101397863 | frameshift variant | AG/- | del | 1 | |||
| rs876661347 | 1.000 | 0.160 | X | 101397959 | frameshift variant | AGGATTACAGGCCACT/- | del | 1 | |||
| rs1555985200 | 1.000 | 0.160 | X | 101398947 | splice acceptor variant | C/- | del | 1 | |||
| rs1569304851 | 1.000 | 0.160 | X | 101403873 | stop gained | C/A | snv | 1 | |||
| rs869312145 | 1.000 | 0.160 | X | 101401639 | missense variant | C/A | snv | 1 | |||
| rs869312165 | 1.000 | 0.160 | X | 101397923 | missense variant | C/A | snv | 1 | |||
| rs869312401 | 1.000 | 0.160 | X | 101398804 | missense variant | C/A | snv | 1 | |||
| rs398123206 | 1.000 | 0.160 | X | 101403986 | splice acceptor variant | C/A;G | snv | 1 | |||
| rs104894828 | 0.882 | 0.160 | X | 101398467 | missense variant | C/A;T | snv | 3 | |||
| rs104894839 | 1.000 | 0.160 | X | 101398508 | stop gained | C/A;T | snv | 1 | |||
| rs104894844 | 1.000 | 0.160 | X | 101397907 | stop gained | C/A;T | snv | 5.5E-06 | 1 | ||
| rs190347120 | 1.000 | 0.160 | X | 101398796 | missense variant | C/A;T | snv | 5.5E-06 | 1 | ||
| rs372966991 | 1.000 | 0.160 | X | 101403845 | missense variant | C/A;T | snv | 1.1E-05 | 1 | ||
| rs398123216 | 1.000 | 0.160 | X | 101398947 | splice acceptor variant | C/A;T | snv | 1 | |||
| rs727504350 | 1.000 | 0.160 | X | 101401694 | stop gained | C/A;T | snv | 1 | |||
| rs869312214 | 1.000 | 0.160 | X | 101398078 | stop gained | C/A;T | snv | 1 |