Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555985830 | 1.000 | 0.160 | X | 101401740 | missense variant | C/T | snv | 1 | |||
| rs1569302697 | 1.000 | 0.160 | X | 101398023 | inframe deletion | TCCTGCCGGTTTATC/- | delins | 1 | |||
| rs1569304190 | 1.000 | 0.160 | X | 101401735 | missense variant | A/C | snv | 1 | |||
| rs1569304851 | 1.000 | 0.160 | X | 101403873 | stop gained | C/A | snv | 1 | |||
| rs1569304886 | 1.000 | 0.160 | X | 101403914 | missense variant | A/C | snv | 1 | |||
| rs28935485 | 0.925 | 0.160 | X | 101398534 | missense variant | G/C | snv | 1 | |||
| rs28935488 | 1.000 | 0.160 | X | 101398563 | missense variant | A/C;G;T | snv | 1 | |||
| rs28935489 | 1.000 | 0.160 | X | 101398479 | missense variant | G/A;C | snv | 1 | |||
| rs28935491 | 1.000 | 0.160 | X | 101398390 | stop gained | G/A;T | snv | 1 | |||
| rs28935492 | 1.000 | 0.160 | X | 101398386 | missense variant | C/G | snv | 1 | |||
| rs398123198 | 1.000 | 0.160 | X | 101398065 | frameshift variant | AG/- | delins | 1 | |||
| rs398123216 | 1.000 | 0.160 | X | 101398947 | splice acceptor variant | C/A;T | snv | 1 | |||
| rs398123221 | 1.000 | 0.160 | X | 101398838 | stop gained | G/A;T | snv | 1 | |||
| rs398123223 | 1.000 | 0.160 | X | 101398470 | missense variant | A/G | snv | 1 | |||
| rs398123224 | 1.000 | 0.160 | X | 101398468 | stop gained | G/A;C | snv | 1 | |||
| rs398123228 | 1.000 | 0.160 | X | 101398395 | missense variant | C/T | snv | 1 | |||
| rs727503072 | 1.000 | 0.160 | X | 101401793 | missense variant | A/G | snv | 1 | |||
| rs727503950 | 1.000 | 0.160 | X | 101400712 | missense variant | A/G | snv | 1.1E-05 | 1.9E-05 | 1 | |
| rs727504350 | 1.000 | 0.160 | X | 101401694 | stop gained | C/A;T | snv | 1 | |||
| rs730880442 | 1.000 | 0.160 | X | 101397870 | missense variant | G/A;T | snv | 1 | |||
| rs730880451 | 1.000 | 0.160 | X | 101398785 | missense variant | C/T | snv | 1 | |||
| rs797044775 | 1.000 | 0.160 | X | 101397942 | missense variant | T/G | snv | 1 | |||
| rs869025435 | 1.000 | 0.160 | X | 101398546 | frameshift variant | G/- | delins | 1 | |||
| rs869312140 | 1.000 | 0.160 | X | 101403924 | missense variant | A/G | snv | 1 | |||
| rs869312141 | 1.000 | 0.160 | X | 101403908 | missense variant | A/G;T | snv | 1 |