Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199472990 | 0.882 | 0.120 | 7 | 150950312 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
rs199473522 | 0.882 | 0.120 | 7 | 150951583 | missense variant | C/T | snv | 3 | |||
rs199473538 | 0.882 | 0.120 | 7 | 150948981 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs199472719 | 0.882 | 0.120 | 11 | 2572104 | missense variant | C/T | snv | 4.1E-06 | 3 | ||
rs199473411 | 0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv | 3 | |||
rs199473456 | 0.882 | 0.120 | 11 | 2571394 | missense variant | C/T | snv | 1.2E-05 | 3 | ||
rs397508120 | 0.882 | 0.120 | 11 | 2570734 | frameshift variant | G/- | delins | 3 | |||
rs794728565 | 0.882 | 0.120 | 11 | 2527943 | frameshift variant | G/- | delins | 3 | |||
rs199473103 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 3 | |||
rs199473317 | 0.882 | 0.120 | 3 | 38551003 | missense variant | T/C | snv | 3 | |||
rs199473631 | 0.925 | 0.120 | 3 | 38551085 | missense variant | C/T | snv | 3 | |||
rs199473507 | 0.925 | 0.120 | 7 | 150952723 | missense variant | T/C | snv | 2 | |||
rs769505732 | 0.925 | 0.120 | 7 | 150952696 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs12720449 | 0.925 | 0.120 | 11 | 2588804 | missense variant | C/A;G;T | snv | 7.2E-05; 7.5E-03; 2.0E-05 | 2 | ||
rs199473394 | 0.925 | 0.120 | 11 | 2570685 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs794728568 | 0.925 | 0.120 | 11 | 2570707 | missense variant | G/A;T | snv | 2 | |||
rs397508091 | 0.925 | 0.120 | 11 | 2662080 | stop gained | C/T | snv | 2 | |||
rs121434386 | 0.925 | 0.120 | 11 | 118141265 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs199473051 | 0.925 | 0.120 | 3 | 38633058 | missense variant | C/T | snv | 2 | |||
rs794728846 | 0.925 | 0.120 | 3 | 38620972 | splice acceptor variant | C/T | snv | 2 | |||
rs794728879 | 0.925 | 0.120 | 3 | 38560146 | splice donor variant | C/A;G;T | snv | 2 | |||
rs554903493 | 1.000 | 0.120 | 5 | 102419940 | missense variant | G/A | snv | 8.2E-06 | 2 | ||
rs199473359 | 1.000 | 0.120 | 21 | 34449393 | missense variant | T/A;C | snv | 8.0E-06 | 1 | ||
rs199472960 | 1.000 | 0.120 | 7 | 150951496 | missense variant | T/C | snv | 1 | |||
rs199473447 | 1.000 | 0.120 | 11 | 2445412 | missense variant | A/T | snv | 1 |