Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs111854391 | 0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 | 18 | ||
rs104893810 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 7 | |||
rs104893819 | 0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv | 5 | |||
rs137854478 | 0.851 | 0.160 | 15 | 48488233 | missense variant | C/T | snv | 4 | |||
rs111426349 | 0.882 | 0.120 | 9 | 99149252 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs104893811 | 0.851 | 0.160 | 3 | 30674228 | missense variant | C/T | snv | 4 | |||
rs104893815 | 0.851 | 0.240 | 3 | 30691478 | missense variant | G/A | snv | 4 | |||
rs1553303352 | 0.882 | 0.120 | 1 | 218437368 | missense variant | C/T | snv | 3 | |||
rs869312903 | 0.882 | 0.120 | 1 | 218436119 | missense variant | C/A;T | snv | 3 | |||
rs113605875 | 0.882 | 0.120 | 9 | 99149253 | missense variant | G/A;C;T | snv | 3 | |||
rs727503475 | 0.882 | 0.120 | 3 | 30688512 | splice donor variant | G/A;T | snv | 3 | |||
rs727504292 | 0.882 | 0.120 | 3 | 30672250 | missense variant | G/A;C | snv | 1.6E-05 | 3 | ||
rs727504421 | 0.882 | 0.160 | 3 | 30691465 | missense variant | G/A;T | snv | 3 | |||
rs587779715 | 0.925 | 0.200 | 2 | 189008089 | missense variant | G/C | snv | 2 | |||
rs869025531 | 0.925 | 0.120 | 1 | 218405213 | stop gained | C/T | snv | 2 | |||
rs193922664 | 0.925 | 0.120 | 3 | 30691435 | missense variant | T/C | snv | 2 | |||
rs727503477 | 0.925 | 0.120 | 3 | 30691486 | missense variant | G/A | snv | 2 | |||
rs730880215 | 1.000 | 0.120 | 15 | 67181453 | stop gained | G/A;T | snv | 4.1E-06 | 1 | ||
rs730880221 | 1.000 | 0.120 | 1 | 218434115 | stop gained | C/T | snv | 1 | |||
rs869025533 | 1.000 | 0.120 | 1 | 218405191 | frameshift variant | -/A | delins | 1 | |||
rs1554701911 | 1.000 | 0.120 | 9 | 99144816 | missense variant | G/T | snv | 1 | |||
rs730880223 | 1.000 | 0.120 | 9 | 99149237 | missense variant | A/G | snv | 1 | |||
rs760079636 | 1.000 | 0.120 | 9 | 99142664 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs863223829 | 1.000 | 0.120 | 9 | 99137962 | inframe deletion | AAG/- | delins | 1 | |||
rs886038919 | 1.000 | 0.120 | 9 | 99138041 | missense variant | A/G | snv | 1 |