Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137854601 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
rs16847548 | 0.807 | 0.120 | 1 | 162065484 | upstream gene variant | T/C | snv | 0.22 | 8 | ||
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 | |||
rs74315445 | 0.807 | 0.120 | 21 | 34449409 | missense variant | C/T | snv | 6.8E-05 | 5.3E-05 | 6 | |
rs121434500 | 0.851 | 0.120 | 20 | 33410203 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 5 | |
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 | ||
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 | ||
rs199473428 | 0.851 | 0.120 | 7 | 150951643 | missense variant | C/A;G;T | snv | 8.0E-06 | 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 | ||
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 | |||
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 | |||
rs199473538 | 0.882 | 0.120 | 7 | 150948981 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 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 |