Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 6 | 38722996 | missense variant | G/A;C | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 16 | 28491759 | start lost | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28491758 | start lost | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28491713 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28491561 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28491558 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28491502 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28491481 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28491477 | splice region variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 28489387 | splice acceptor variant | C/T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28489316 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 28489298 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28489288 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28489285 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28488663 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28488651 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 16 | 28488620 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28488603 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 28487743 | splice acceptor variant | T/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28487734 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 16 | 28487665 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28487664 | frameshift variant | -/A | ins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28487662 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 16 | 28487537 | splice acceptor variant | G/-;GGG | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 28487516 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 4 | 1997 | 2012 |