Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs63750217 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 10 | |||
rs63750206 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 9 | |||
rs63749795 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 8 | |||
rs63750899 | 0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv | 7 | |||
rs267607720 | 0.851 | 0.240 | 3 | 37000952 | splice region variant | C/G;T | snv | 6 | |||
rs267607768 | 0.851 | 0.240 | 3 | 37011867 | splice region variant | G/A;C | snv | 6 | |||
rs267607871 | 0.851 | 0.240 | 3 | 37048515 | splice acceptor variant | A/G | snv | 4.0E-06 | 6 | ||
rs63750540 | 0.851 | 0.240 | 3 | 37025979 | stop gained | A/T | snv | 6 | |||
rs63750610 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 6 | |||
rs63751275 | 0.851 | 0.240 | 3 | 37048973 | missense variant | C/A;G;T | snv | 1.2E-05; 2.0E-05 | 6 | ||
rs63751615 | 0.851 | 0.200 | 3 | 37012098 | stop gained | C/A;T | snv | 4.0E-06 | 6 | ||
rs63751247 | 0.882 | 0.200 | 3 | 37047632 | inframe deletion | AAG/- | delins | 5 | |||
rs1553647894 | 0.882 | 0.200 | 3 | 37020309 | splice acceptor variant | G/A;C | snv | 4 | |||
rs267607735 | 0.851 | 0.240 | 3 | 37001058 | splice region variant | G/A | snv | 4 | |||
rs121912965 | 0.882 | 0.200 | 3 | 36993651 | missense variant | TG/AC | mnv | 3 | |||
rs397514684 | 1.000 | 0.160 | 3 | 37000965 | missense variant | T/C;G | snv | 2 |