Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908104 | 1.000 | 0.200 | 18 | 49974547 | stop gained | C/T | snv | 1.2E-05 | 2.8E-05 | 1 | |
rs753558336 | 1.000 | 0.200 | 18 | 49984718 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 | 1 | |
rs1053713532 | 1.000 | 0.200 | 18 | 49992388 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs1283622290 | 1.000 | 0.200 | 18 | 49974369 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs1324907355 | 1.000 | 0.200 | 18 | 50001365 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1555793103 | 0.882 | 0.240 | 18 | 49836710 | splice donor variant | C/G | snv | 4 | |||
rs1555793199 | 0.882 | 0.240 | 18 | 49837750 | frameshift variant | G/- | delins | 4 | |||
rs121908106 | 0.925 | 0.200 | 18 | 49936276 | missense variant | G/A | snv | 4.3E-06 | 2 | ||
rs121908103 | 1.000 | 0.200 | 18 | 50036982 | missense variant | A/C;G | snv | 1 | |||
rs121908105 | 1.000 | 0.200 | 18 | 49936289 | missense variant | G/A;C;T | snv | 1.7E-05; 1.3E-05; 2.2E-05 | 1 | ||
rs1555648414 | 1.000 | 0.200 | 18 | 49974470 | missense variant | C/T | snv | 1 | |||
rs1568049625 | 1.000 | 0.200 | 18 | 49963032 | splice acceptor variant | T/C | snv | 1 | |||
rs727505394 | 1.000 | 0.200 | 18 | 49936250 | splice donor variant | A/G;T | snv | 4.7E-06 | 1 | ||
rs727505395 | 1.000 | 0.200 | 18 | 49878940 | splice region variant | C/T | snv | 1 | |||
rs762039116 | 1.000 | 0.200 | 18 | 49839231 | stop gained | C/A;T | snv | 4.0E-06; 2.4E-05 | 1 |