Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs104894849 | 1.000 | 0.160 | X | 101398004 | stop gained | A/G;T | snv | 5.5E-06 | 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 | |||
| rs1057516429 | 1.000 | 0.160 | X | 101403936 | stop gained | T/A | snv | 1 | |||
| rs1057519609 | 1.000 | 0.160 | X | 101397950 | inframe deletion | AAG/- | delins | 1 | |||
| rs1060500747 | 1.000 | 0.160 | X | 101398851 | stop gained | C/T | snv | 1 | |||
| rs111422676 | 1.000 | 0.160 | X | 101398011 | missense variant | C/T | snv | 5.5E-05 | 1.3E-04 | 1 | |
| rs111812846 | 1.000 | 0.160 | X | 101398495 | missense variant | C/G;T | snv | 1 | |||
| rs112341092 | 1.000 | 0.160 | X | 101397855 | missense variant | A/G | snv | 1 | |||
| rs148158093 | 0.925 | 0.200 | X | 101403828 | missense variant | G/A | snv | 2.2E-04 | 4.0E-04 | 1 | |
| rs1555984840 | 1.000 | 0.160 | X | 101398043 | frameshift variant | AG/- | del | 1 | |||
| rs1555985002 | 1.000 | 0.160 | X | 101398520 | frameshift variant | -/T | delins | 1 | |||
| rs1555985091 | 1.000 | 0.160 | X | 101398799 | frameshift variant | -/C | delins | 1 | |||
| rs1555985200 | 1.000 | 0.160 | X | 101398947 | splice acceptor variant | C/- | del | 1 | |||
| rs1555985814 | 1.000 | 0.160 | X | 101401703 | missense variant | A/C | snv | 1 | |||
| rs1555985827 | 1.000 | 0.160 | X | 101401723 | stop gained | G/A;T | snv | 1 | |||
| rs1555985830 | 1.000 | 0.160 | X | 101401740 | missense variant | C/T | snv | 1 | |||
| rs1555986305 | 1.000 | 0.160 | X | 101403915 | missense variant | G/A | snv | 1 | |||
| rs1555987101 | 1.000 | 0.160 | X | 101407763 | missense variant | C/G | snv | 1 | |||
| rs1555987175 | 1.000 | 0.160 | X | 101407831 | frameshift variant | -/ACGAGGGCCAGGAA | delins | 1 | |||
| rs1555987215 | 1.000 | 0.160 | X | 101407878 | frameshift variant | T/- | del | 1 | |||
| rs1555987232 | 1.000 | 0.160 | X | 101407902 | start lost | A/G | snv | 1 | |||
| rs1569302697 | 1.000 | 0.160 | X | 101398023 | inframe deletion | TCCTGCCGGTTTATC/- | delins | 1 | |||
| rs1569302887 | 1.000 | 0.160 | X | 101398374 | frameshift variant | -/T | delins | 1 | |||
| rs1569303030 | 1.000 | 0.160 | X | 101398506 | frameshift variant | G/- | del | 1 |