Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs120074186 | 0.851 | 0.120 | 11 | 2572979 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 4 | ||
rs199472696 | 0.851 | 0.120 | 11 | 2570670 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs199472815 | 0.851 | 0.120 | 11 | 2778024 | missense variant | G/A;C | snv | 2.0E-05 | 4 | ||
rs397508118 | 0.851 | 0.120 | 11 | 2570720 | frameshift variant | GCGCT/- | delins | 1.4E-05 | 4 | ||
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 | |||
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 | |||
rs199473447 | 1.000 | 0.120 | 11 | 2445412 | missense variant | A/T | snv | 1 | |||
rs794728530 | 1.000 | 0.120 | 11 | 2768851 | stop gained | G/T | snv | 1 | |||
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 | ||
rs137854601 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
rs199473225 | 0.851 | 0.120 | 3 | 38560397 | missense variant | G/A;C | snv | 6 | |||
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 | |||
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 | |||
rs1480085793 | 1.000 | 0.120 | 3 | 38620919 | stop gained | G/A | snv | 4.0E-06 | 1 |