Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587778779 | 0.807 | 0.240 | 2 | 218814379 | splice acceptor variant | G/A;T | snv | 14 | |||
rs781939614 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 11 | ||
rs781984979 | 0.851 | 0.240 | 1 | 145912346 | stop gained | G/A | snv | 4.0E-06 | 11 | ||
rs121908096 | 0.827 | 0.320 | 2 | 218814186 | missense variant | C/A;T | snv | 8.0E-06; 2.9E-04 | 10 | ||
rs886556800 | 0.827 | 0.320 | 2 | 218809576 | splice acceptor variant | G/T | snv | 10 | |||
rs114638163 | 0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 | 10 | ||
rs796051881 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 9 | |||
rs864309532 | 0.807 | 0.360 | X | 134393952 | missense variant | G/A | snv | 7 | |||
rs864309531 | 0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv | 5 | |||
rs797045905 | 0.851 | 0.360 | 2 | 135164629 | stop gained | T/G | snv | 5 | |||
rs730882219 | 0.882 | 0.200 | 17 | 745591 | missense variant | A/C;G | snv | 4.1E-06; 1.2E-05 | 4 | ||
rs878853162 | 0.851 | 0.320 | 6 | 30723724 | missense variant | C/T | snv | 4 | |||
rs587778872 | 0.807 | 0.200 | 2 | 208128231 | missense variant | G/A;C | snv | 8.0E-06 | 3 | ||
rs1177898071 | 0.925 | 0.240 | 11 | 47419927 | intron variant | T/C;G | snv | 3 | |||
rs397515623 | 0.925 | 0.200 | 21 | 43169259 | missense variant | C/T | snv | 2 | |||
rs397515625 | 0.882 | 0.200 | 21 | 43169160 | missense variant | C/A;T | snv | 4.0E-06 | 2 | ||
rs104894201 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 2 | |||
rs74315489 | 0.925 | 0.200 | 22 | 25231617 | stop gained | C/T | snv | 2 | |||
rs886041410 | 0.925 | 0.200 | 22 | 25231717 | missense variant | G/A;T | snv | 2 | |||
rs74315490 | 0.925 | 0.200 | 22 | 25207069 | missense variant | G/A;C | snv | 2.0E-05; 1.2E-05 | 2 | ||
rs864309681 | 0.925 | 0.200 | 11 | 31790816 | frameshift variant | G/- | delins | 2 | |||
rs864309691 | 0.925 | 0.200 | 13 | 20143113 | missense variant | G/A | snv | 2 | |||
rs864309688 | 0.882 | 0.200 | 1 | 147908089 | missense variant | G/C | snv | 7.0E-06 | 2 | ||
rs864309703 | 1.000 | 0.200 | 1 | 147908106 | missense variant | G/A;C;T | snv | 2 | |||
rs1568480054 | 0.925 | 0.200 | 19 | 51380577 | missense variant | G/A | snv | 2 |