Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs267607114 | 1.000 | 0.160 | 8 | 93793256 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs267607118 | 1.000 | 0.160 | 8 | 93755044 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 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 | ||
rs781383498 | 1.000 | 0.160 | 8 | 93799649 | missense variant | A/C | snv | 8.0E-06 | 2.1E-05 | 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 | |||
rs863225236 | 1.000 | 0.160 | 8 | 93815341 | missense variant | G/A | snv | 1 | |||
rs863225237 | 1.000 | 0.160 | 8 | 93782410 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 1 | ||
rs863225238 | 1.000 | 0.160 | 8 | 93797456 | missense variant | C/T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs863225239 | 1.000 | 0.160 | 8 | 93809166 | splice region variant | G/A | snv | 4.0E-06 | 1 | ||
rs863225240 | 1.000 | 0.160 | 8 | 93803689 | splice region variant | G/- | del | 1 | |||
rs199821258 | 0.925 | 0.320 | 8 | 93765648 | splice donor variant | T/G | snv | 5.6E-05 | 2.8E-05 | 2 | |
rs267607115 | 0.925 | 0.280 | 8 | 93795503 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs386834192 | 0.925 | 0.320 | 8 | 93803685 | splice donor variant | -/T | delins | 1.4E-05 | 2 | ||
rs386834205 | 0.925 | 0.320 | 8 | 93772612 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 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 |