Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
rs752362727 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 22 | ||
rs386834180 | 0.776 | 0.360 | 8 | 93781725 | missense variant | T/C | snv | 2.0E-05 | 4.2E-05 | 8 | |
rs863225235 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs386833750 | 0.807 | 0.360 | 4 | 15563485 | stop gained | C/A;G;T | snv | 2.0E-05; 2.0E-05 | 6 | ||
rs370880399 | 0.827 | 0.360 | 4 | 15563395 | stop gained | C/T | snv | 1.0E-04 | 1.0E-04 | 5 | |
rs781252161 | 0.827 | 0.360 | 4 | 15533284 | stop gained | C/T | snv | 1.8E-05 | 7.0E-06 | 5 | |
rs121918204 | 0.827 | 0.360 | 16 | 53652637 | stop gained | G/A | snv | 6.4E-05 | 2.1E-05 | 5 | |
rs267607119 | 0.827 | 0.360 | 8 | 93808898 | missense variant | T/C | snv | 4.0E-05 | 8.4E-05 | 5 | |
rs202149403 | 0.851 | 0.360 | 8 | 93780633 | missense variant | T/C;G | snv | 8.4E-05 | 4 | ||
rs1560184664 | 0.882 | 0.360 | 4 | 15563461 | frameshift variant | TA/- | delins | 3 | |||
rs764719093 | 0.882 | 0.360 | 4 | 15557361 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 3 | ||
rs121918203 | 0.882 | 0.360 | 16 | 53645694 | stop gained | G/A | snv | 2.0E-05 | 4.9E-05 | 3 | |
rs137853107 | 0.882 | 0.360 | 8 | 93791282 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs749435317 | 0.882 | 0.280 | 8 | 93786287 | frameshift variant | A/- | del | 3 | |||
rs118204052 | 0.925 | 0.360 | 4 | 15599614 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs267606709 | 0.925 | 0.360 | 4 | 15567735 | missense variant | C/T | snv | 3.8E-05 | 5.6E-05 | 2 | |
rs145665129 | 0.925 | 0.360 | 16 | 53645895 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs267607020 | 0.925 | 0.360 | 16 | 53652712 | missense variant | A/G | snv | 2 | |||
rs267607115 | 0.925 | 0.280 | 8 | 93795503 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs386834182 | 0.925 | 0.360 | 8 | 93786253 | missense variant | G/A | snv | 6.0E-05 | 4.2E-05 | 2 | |
rs750950408 | 0.925 | 0.280 | 8 | 93765414 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 | 2 | ||
rs758948621 | 0.925 | 0.280 | 8 | 93797329 | splice acceptor variant | A/C | snv | 4.0E-06 | 2 | ||
rs786200867 | 0.925 | 0.280 | 8 | 93808957 | splice donor variant | G/T | snv | 2 | |||
rs797046045 | 0.925 | 0.280 | 8 | 93755851 | missense variant | G/T | snv | 7.4E-06 | 2 |