Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs112341092 | 1.000 | 0.160 | X | 101397855 | missense variant | A/G | snv | 1 | |||
rs869312246 | 1.000 | 0.160 | X | 101397858 | stop gained | A/G;T | snv | 1 | |||
rs797044777 | 1.000 | 0.160 | X | 101397863 | frameshift variant | AG/- | del | 1 | |||
rs730880442 | 1.000 | 0.160 | X | 101397870 | missense variant | G/A;T | snv | 1 | |||
rs104894852 | 0.925 | 0.200 | X | 101397871 | missense variant | T/C | snv | 3 | |||
rs878853698 | 1.000 | 0.160 | X | 101397874 | missense variant | G/A;C | snv | 1 | |||
rs782449839 | 1.000 | 0.160 | X | 101397903 | missense variant | C/G | snv | 8.2E-05 | 1.9E-05 | 1 | |
rs104894844 | 1.000 | 0.160 | X | 101397907 | stop gained | C/A;T | snv | 5.5E-06 | 1 | ||
rs869312165 | 1.000 | 0.160 | X | 101397923 | missense variant | C/A | snv | 1 | |||
rs797044775 | 1.000 | 0.160 | X | 101397942 | missense variant | T/G | snv | 1 | |||
rs1057519609 | 1.000 | 0.160 | X | 101397950 | inframe deletion | AAG/- | delins | 1 | |||
rs876661347 | 1.000 | 0.160 | X | 101397959 | frameshift variant | AGGATTACAGGCCACT/- | del | 1 | |||
rs869312164 | 1.000 | 0.160 | X | 101397975 | missense variant | C/G | snv | 1 | |||
rs869312227 | 1.000 | 0.160 | X | 101397981 | splice donor variant | C/T | snv | 1 | |||
rs727504348 | 0.925 | 0.160 | X | 101397982 | missense variant | C/T | snv | 2 | |||
rs104894849 | 1.000 | 0.160 | X | 101398004 | stop gained | A/G;T | snv | 5.5E-06 | 1 | ||
rs111422676 | 1.000 | 0.160 | X | 101398011 | missense variant | C/T | snv | 5.5E-05 | 1.3E-04 | 1 | |
rs28935494 | 1.000 | 0.160 | X | 101398018 | missense variant | C/G;T | snv | 1 | |||
rs782598150 | 1.000 | 0.160 | X | 101398021 | missense variant | C/A;G | snv | 5.5E-06 | 1 | ||
rs1569302697 | 1.000 | 0.160 | X | 101398023 | inframe deletion | TCCTGCCGGTTTATC/- | delins | 1 | |||
rs730880453 | 1.000 | 0.160 | X | 101398025 | inframe deletion | CCT/- | delins | 1 | |||
rs797044774 | 1.000 | 0.160 | X | 101398027 | missense variant | C/T | snv | 1 | |||
rs869312163 | 1.000 | 0.160 | X | 101398032 | missense variant | C/G;T | snv | 1.1E-05 | 1 | ||
rs104894827 | 1.000 | 0.160 | X | 101398033 | missense variant | G/A | snv | 1 | |||
rs886044829 | 1.000 | 0.160 | X | 101398041 | frameshift variant | TA/- | delins | 1 |