Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104886050 | 1.000 | 0.160 | X | 108440126 | start lost | A/G | snv | 1 | |||
rs104886049 | 1.000 | 0.160 | X | 108440138 | stop gained | G/T | snv | 1 | |||
rs281874765 | 1.000 | 0.160 | X | 108440207 | splice donor variant | G/C | snv | 1 | |||
rs104886048 | 1.000 | 0.160 | X | 108539751 | stop gained | C/A | snv | 1 | |||
rs104886047 | 1.000 | 0.160 | X | 108539754 | stop gained | T/C;G | snv | 4.9E-05 | 1 | ||
rs104886323 | 1.000 | 0.160 | X | 108559063 | splice acceptor variant | G/A | snv | 1 | |||
rs104886349 | 1.000 | 0.160 | X | 108559154 | splice donor variant | G/A | snv | 9.4E-06 | 1 | ||
rs104886350 | 1.000 | 0.160 | X | 108563881 | splice acceptor variant | G/A;T | snv | 1 | |||
rs104886365 | 0.925 | 0.160 | X | 108563931 | splice region variant | G/A;T | snv | 2 | |||
rs281874706 | 1.000 | 0.160 | X | 108568638 | missense variant | G/A | snv | 1 | |||
rs104886375 | 1.000 | 0.160 | X | 108568758 | splice acceptor variant | G/A | snv | 1 | |||
rs104886390 | 1.000 | 0.160 | X | 108568785 | inframe deletion | ACCTCAAGG/- | delins | 1 | |||
rs104886396 | 1.000 | 0.160 | X | 108570694 | intron variant | G/A | snv | 1 | |||
rs104886395 | 1.000 | 0.160 | X | 108571412 | splice acceptor variant | G/C | snv | 1 | |||
rs281874723 | 0.925 | 0.160 | X | 108571414 | missense variant | G/A;T | snv | 2 | |||
rs104886051 | 1.000 | 0.160 | X | 108571416 | stop gained | G/T | snv | 1 | |||
rs104886052 | 1.000 | 0.160 | X | 108571458 | missense variant | G/A;C | snv | 1 | |||
rs281874737 | 1.000 | 0.160 | X | 108571459 | missense variant | G/A | snv | 1 | |||
rs281874738 | 1.000 | 0.160 | X | 108571468 | splice donor variant | T/C | snv | 1 | |||
rs281874739 | 1.000 | 0.160 | X | 108571471 | splice region variant | G/A | snv | 1 | |||
rs104886414 | 1.000 | 0.160 | X | 108573562 | intron variant | G/A | snv | 1 | |||
rs104886416 | 1.000 | 0.160 | X | 108573572 | splice acceptor variant | A/G | snv | 1 | |||
rs104886055 | 0.925 | 0.160 | X | 108573628 | missense variant | G/C | snv | 2 | |||
rs104886056 | 0.925 | 0.160 | X | 108573637 | missense variant | G/C;T | snv | 2 | |||
rs281874755 | 1.000 | 0.160 | X | 108573646 | missense variant | G/A | snv | 1 |