Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs16847548 | 0.807 | 0.120 | 1 | 162065484 | upstream gene variant | T/C | snv | 0.22 | 8 | ||
rs12720459 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 7 | |||
rs199473225 | 0.851 | 0.120 | 3 | 38560397 | missense variant | G/A;C | snv | 6 | |||
rs267607277 | 0.807 | 0.120 | 14 | 90404386 | missense variant | A/G | snv | 6 | |||
rs398124647 | 0.807 | 0.120 | 2 | 47161851 | missense variant | T/A;C | snv | 6 | |||
rs199472936 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 5 | |||
rs397508118 | 0.851 | 0.120 | 11 | 2570720 | frameshift variant | GCGCT/- | delins | 1.4E-05 | 4 | ||
rs199472944 | 0.882 | 0.120 | 7 | 150951552 | missense variant | G/A | snv | 3 | |||
rs199472990 | 0.882 | 0.120 | 7 | 150950312 | missense variant | G/A | snv | 7.0E-06 | 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 | |||
rs199473411 | 0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv | 3 | |||
rs199473522 | 0.882 | 0.120 | 7 | 150951583 | missense variant | C/T | snv | 3 | |||
rs199473631 | 0.925 | 0.120 | 3 | 38551085 | missense variant | C/T | snv | 3 | |||
rs397508120 | 0.882 | 0.120 | 11 | 2570734 | frameshift variant | G/- | delins | 3 | |||
rs398124650 | 0.882 | 0.120 | 2 | 47161744 | missense variant | C/G;T | snv | 3 | |||
rs4657139 | 0.925 | 0.120 | 1 | 162060117 | intergenic variant | A/T | snv | 0.48 | 3 | ||
rs794728565 | 0.882 | 0.120 | 11 | 2527943 | frameshift variant | G/- | delins | 3 | |||
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 | |||
rs199473394 | 0.925 | 0.120 | 11 | 2570685 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs199473507 | 0.925 | 0.120 | 7 | 150952723 | missense variant | T/C | snv | 2 | |||
rs397508091 | 0.925 | 0.120 | 11 | 2662080 | stop gained | C/T | snv | 2 |