Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1419388177 | 1.000 | 22 | 20996754 | missense variant | T/C | snv | 8.0E-06 | 1 | |||
rs1470449160 | 1.000 | 22 | 20992854 | missense variant | G/A | snv | 4.1E-06 | 1.4E-05 | 1 | ||
rs1569153870 | 1.000 | 22 | 20985897 | splice donor variant | G/- | delins | 1 | ||||
rs1569154722 | 1.000 | 22 | 20988095 | stop gained | G/A | snv | 1 | ||||
rs587777176 | 1.000 | 22 | 20985828 | intron variant | G/A | snv | 4.4E-05 | 1.7E-04 | 1 | ||
rs587777177 | 1.000 | 22 | 20987548 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | ||
rs587777179 | 1.000 | 22 | 20996907 | frameshift variant | CGCA/- | delins | 1 | ||||
rs587777180 | 1.000 | 22 | 20993967 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 | 1 | ||
rs587777613 | 1.000 | 22 | 20982392 | frameshift variant | G/-;GG | delins | 1.4E-05 | 1 | |||
rs751516987 | 1.000 | 22 | 20995982 | missense variant | C/T | snv | 2.4E-05 | 6.3E-05 | 1 | ||
rs753757778 | 1.000 | 22 | 20993964 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 1 | |||
rs767354230 | 1.000 | 22 | 20992819 | missense variant | C/T | snv | 2.1E-05 | 1 | |||
rs773016962 | 1.000 | 22 | 20991692 | missense variant | G/A | snv | 8.8E-06 | 1.4E-05 | 1 | ||
rs773059569 | 1.000 | 22 | 20997260 | missense variant | T/C | snv | 8.0E-06 | 1 | |||
rs776005012 | 1.000 | 22 | 20995805 | stop lost | G/T | snv | 8.0E-06 | 1 | |||
rs781431741 | 1.000 | 22 | 20988118 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | ||
rs797045165 | 0.925 | 22 | 20991686 | missense variant | C/T | snv | 7.0E-06 | 2 | |||
rs189150283 | 0.925 | 22 | 20992304 | stop gained | C/T | snv | 6.0E-05 | 7.0E-05 | 3 | ||
rs587777178 | 0.925 | 0.080 | 22 | 20995865 | missense variant | C/T | snv | 4.4E-05 | 6.3E-05 | 3 | |
rs869320686 | 0.882 | 22 | 20990476 | missense variant | G/A | snv | 5 |