Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs113993946 | 0.925 | 0.160 | X | 149482996 | missense variant | C/A;G;T | snv | 2 | |||
| rs199422231 | 0.925 | 0.160 | X | 149482997 | missense variant | G/A | snv | 2 | |||
| rs104894853 | 1.000 | 0.160 | X | 149490322 | missense variant | G/A | snv | 1 | |||
| rs104894856 | 1.000 | 0.160 | X | 149500977 | missense variant | G/C;T | snv | 1 | |||
| rs104894860 | 1.000 | 0.160 | X | 149498301 | stop gained | G/A;T | snv | 5.5E-06 | 1 | ||
| rs104894861 | 1.000 | 0.160 | X | 149503326 | missense variant | T/C | snv | 1 | |||
| rs1085308006 | 1.000 | 0.160 | X | 149496419 | missense variant | T/A | snv | 1 | |||
| rs113993945 | 1.000 | 0.160 | X | 149498132 | missense variant | G/T | snv | 1 | |||
| rs113993947 | 1.000 | 0.160 | X | 149498308 | splice acceptor variant | C/G;T | snv | 1 | |||
| rs113993948 | 1.000 | 0.160 | X | 149486983 | synonymous variant | G/A | snv | 1 | |||
| rs113993949 | 1.000 | 0.160 | X | 149503477 | missense variant | C/T | snv | 1 | |||
| rs113993952 | 1.000 | 0.160 | X | 149503494 | splice region variant | T/A | snv | 1 | |||
| rs113993953 | 1.000 | 0.160 | X | 149490436 | missense variant | T/A;C | snv | 1.6E-04 | 1 | ||
| rs113993954 | 1.000 | 0.160 | X | 149504185 | missense variant | C/T | snv | 1 | |||
| rs113993955 | 1.000 | 0.160 | X | 149504216 | missense variant | A/G | snv | 1 | |||
| rs145807417 | 1.000 | 0.160 | X | 149490395 | missense variant | T/C | snv | 1.3E-03 | 4.8E-03 | 1 | |
| rs146458524 | 1.000 | 0.160 | X | 149496471 | missense variant | C/A;T | snv | 1.6E-05; 3.1E-03 | 1 | ||
| rs1557338127 | 1.000 | 0.160 | X | 149486999 | stop gained | G/A;T | snv | 1 | |||
| rs1557338131 | 1.000 | 0.160 | X | 149487006 | missense variant | T/A | snv | 1 | |||
| rs1557338581 | 1.000 | 0.160 | X | 149490314 | missense variant | C/A | snv | 1 | |||
| rs1557339887 | 1.000 | 0.160 | X | 149500978 | inframe deletion | GAT/- | delins | 1 | |||
| rs1557339927 | 1.000 | 0.160 | X | 149501038 | splice acceptor variant | C/T | snv | 1 | |||
| rs1557340280 | 1.000 | 0.160 | X | 149503473 | missense variant | G/A | snv | 1 | |||
| rs1557340403 | 1.000 | 0.160 | X | 149504201 | stop gained | G/A | snv | 1 | |||
| rs1557340558 | 1.000 | 0.160 | X | 149505035 | splice acceptor variant | CTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCT/- | del | 1 |