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 | ||
rs267607116 | 0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv | 8 | |||
rs1554555063 | 0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv | 7 | |||
rs202149403 | 0.851 | 0.360 | 8 | 93780633 | missense variant | T/C;G | snv | 8.4E-05 | 4 | ||
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 | |||
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 | |||
rs863225225 | 0.925 | 0.280 | 8 | 93797184 | missense variant | C/A | snv | 2 | |||
rs863225226 | 0.925 | 0.280 | 8 | 93758559 | missense variant | C/G | snv | 2 | |||
rs863225228 | 0.925 | 0.280 | 8 | 93787884 | missense variant | C/T | snv | 2 | |||
rs863225233 | 0.925 | 0.280 | 8 | 93815365 | missense variant | T/G | snv | 2 | |||
rs863225234 | 0.925 | 0.280 | 8 | 93808922 | missense variant | A/C | snv | 2 | |||
rs116647652 | 1.000 | 0.160 | 8 | 93786285 | stop gained | C/A;T | snv | 8.0E-06 | 1 | ||
rs1554557920 | 1.000 | 0.160 | 8 | 93803677 | splice donor variant | TGAGTAATGTAA/G | delins | 1 | |||
rs751309268 | 1.000 | 0.160 | 8 | 93755854 | stop gained | C/A;T | snv | 8.1E-06 | 1 | ||
rs751517725 | 1.000 | 0.160 | 8 | 93803652 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs762543032 | 1.000 | 0.160 | 8 | 93755798 | missense variant | C/T | snv | 4.3E-06 | 1 | ||
rs772437766 | 1.000 | 0.160 | 8 | 93755799 | missense variant | C/G;T | snv | 8.6E-06 | 1 | ||
rs775256658 | 1.000 | 0.160 | 8 | 93780985 | splice region variant | A/G | snv | 4.0E-06 | 1 | ||
rs863225224 | 1.000 | 0.160 | 8 | 93793299 | splice region variant | A/G | snv | 1 | |||
rs863225229 | 1.000 | 0.160 | 8 | 93780608 | missense variant | A/G | snv | 1 | |||
rs863225230 | 1.000 | 0.160 | 8 | 93804807 | missense variant | C/A | snv | 1 |