Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397515757 | 0.752 | 0.200 | 15 | 48515382 | splice region variant | C/T | snv | 10 | |||
rs794728195 | 0.752 | 0.200 | 15 | 48495155 | missense variant | G/A | snv | 10 | |||
rs794728319 | 0.851 | 0.160 | 15 | 48427731 | frameshift variant | AT/- | del | 4 | |||
rs863223852 | 0.882 | 0.120 | 3 | 30688476 | stop gained | C/A;T | snv | 4.0E-06 | 4 | ||
rs1015798796 | 0.882 | 0.160 | 20 | 46725684 | stop gained | C/G | snv | 1.4E-05 | 3 | ||
rs104893809 | 0.882 | 0.120 | 3 | 30691504 | missense variant | C/T | snv | 3 | |||
rs121912923 | 0.882 | 0.160 | 2 | 188996479 | missense variant | G/A;C;T | snv | 3 | |||
rs1555395209 | 0.882 | 0.160 | 15 | 48437054 | frameshift variant | -/G | delins | 3 | |||
rs1555395742 | 0.882 | 0.160 | 15 | 48445370 | splice region variant | A/G | snv | 3 | |||
rs1555396638 | 0.882 | 0.160 | 15 | 48460305 | frameshift variant | -/TA | delins | 3 | |||
rs193922198 | 0.882 | 0.160 | 15 | 48488383 | frameshift variant | C/- | del | 3 | |||
rs397515808 | 0.882 | 0.160 | 15 | 48470687 | missense variant | C/A;G;T | snv | 1.6E-05 | 3 | ||
rs727503475 | 0.882 | 0.120 | 3 | 30688512 | splice donor variant | G/A;T | snv | 3 | |||
rs794728165 | 0.882 | 0.160 | 15 | 48520716 | stop gained | G/A | snv | 3 | |||
rs794728190 | 0.882 | 0.160 | 15 | 48496213 | missense variant | C/A;T | snv | 3 | |||
rs1553507180 | 0.925 | 0.040 | 2 | 188988083 | frameshift variant | C/- | delins | 2 | |||
rs1553507867 | 0.925 | 0.040 | 2 | 188994066 | missense variant | G/A | snv | 2 | |||
rs1553517181 | 0.925 | 0.040 | 2 | 189084028 | missense variant | C/T | snv | 2 | |||
rs1553808296 | 0.925 | 0.040 | 3 | 123707752 | splice donor variant | A/G | snv | 2 | |||
rs1554799402 | 0.925 | 0.040 | 9 | 134785008 | missense variant | G/C | snv | 2 | |||
rs1555393516 | 0.925 | 0.040 | 15 | 48411101 | frameshift variant | -/G | delins | 2 | |||
rs1555393856 | 0.925 | 0.040 | 15 | 48415631 | stop gained | A/T | snv | 2 | |||
rs1555394142 | 0.925 | 0.040 | 15 | 48420718 | stop gained | G/T | snv | 2 | |||
rs1555399387 | 0.925 | 0.040 | 15 | 48497392 | splice acceptor variant | C/A | snv | 2 | |||
rs1555459260 | 0.925 | 0.040 | 16 | 15838252 | start lost | T/C | snv | 2 |