Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs137854601 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
rs1805128 | 0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 | 10 | ||
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 | |||
rs199472910 | 0.827 | 0.120 | 7 | 150952508 | missense variant | G/A | snv | 1.2E-05 | 5 | ||
rs199472936 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 5 | |||
rs120074186 | 0.851 | 0.120 | 11 | 2572979 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 4 | ||
rs199472815 | 0.851 | 0.120 | 11 | 2778024 | missense variant | G/A;C | snv | 2.0E-05 | 4 | ||
rs199473428 | 0.851 | 0.120 | 7 | 150951643 | missense variant | C/A;G;T | snv | 8.0E-06 | 4 | ||
rs199472719 | 0.882 | 0.120 | 11 | 2572104 | missense variant | C/T | snv | 4.1E-06 | 3 | ||
rs199472944 | 0.882 | 0.120 | 7 | 150951552 | missense variant | G/A | snv | 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 | |||
rs199473456 | 0.882 | 0.120 | 11 | 2571394 | missense variant | C/T | snv | 1.2E-05 | 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 | |||
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 |