Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs903985237 | 1.000 | 0.160 | 2 | 219418482 | missense variant | C/T | snv | 1 | |||
rs886043080 | 1.000 | 0.160 | 2 | 219421529 | frameshift variant | T/- | del | 1 | |||
rs886043000 | 1.000 | 0.160 | 2 | 219418835 | stop gained | A/T | snv | 1 | |||
rs748323823 | 1.000 | 0.160 | 2 | 219425746 | splice donor variant | G/A;C | snv | 3.4E-05 | 1 | ||
rs730880289 | 1.000 | 0.160 | 2 | 219420158 | splice region variant | AG/- | delins | 1 | |||
rs62636495 | 0.925 | 0.200 | 2 | 219418500 | missense variant | C/A;T | snv | 4 | |||
rs62635763 | 1.000 | 0.160 | 2 | 219423787 | missense variant | C/A;T | snv | 1 | |||
rs61726467 | 0.882 | 0.160 | 2 | 219421553 | stop gained | G/A;T | snv | 3 | |||
rs61368398 | 1.000 | 0.160 | 2 | 219421380 | missense variant | G/A;C;T | snv | 3.2E-05 | 2 | ||
rs61130669 | 0.925 | 0.160 | 2 | 219421511 | missense variant | G/T | snv | 2 | |||
rs60798368 | 0.925 | 0.160 | 2 | 219418508 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs60794845 | 1.000 | 0.160 | 2 | 219418599 | missense variant | C/A;T | snv | 1 | |||
rs60538473 | 0.925 | 0.160 | 2 | 219418977 | inframe deletion | CGCGCGTCGACGTCGAGCGCG/- | delins | 2 | |||
rs59962885 | 0.807 | 0.200 | 2 | 219420939 | missense variant | G/A;C;T | snv | 6.8E-05 | 11 | ||
rs59308628 | 1.000 | 0.160 | 2 | 219421425 | missense variant | T/C | snv | 1 | |||
rs58999456 | 1.000 | 0.160 | 2 | 219418467 | missense variant | G/T | snv | 1 | |||
rs58898021 | 0.925 | 0.160 | 2 | 219421385 | missense variant | G/C | snv | 3 | |||
rs58687088 | 1.000 | 0.160 | 2 | 219421410 | inframe deletion | ACA/- | delins | 1 | |||
rs57965306 | 0.925 | 0.160 | 2 | 219421365 | missense variant | G/A;C | snv | 2.8E-05 | 6 | ||
rs57955682 | 1.000 | 0.160 | 2 | 219421470 | missense variant | T/C | snv | 1 | |||
rs57694264 | 1.000 | 0.160 | 2 | 219421517 | missense variant | G/A | snv | 1 | |||
rs57639980 | 1.000 | 0.160 | 2 | 219421350 | missense variant | T/C | snv | 2 | |||
rs57496341 | 1.000 | 0.160 | 2 | 219420943 | missense variant | T/C;G | snv | 1 | |||
rs398122940 | 1.000 | 0.160 | 2 | 219425661 | splice acceptor variant | A/G | snv | 1 | |||
rs397516698 | 1.000 | 0.160 | 2 | 219420347 | splice donor variant | G/A;C;T | snv | 1 |