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 | 0.200 | X | 10482609 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 1997 | 2005 | |||||
|
1 | 1.000 | 0.200 | X | 10449495 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 1997 | 2005 | |||||
|
1 | 1.000 | 0.200 | X | 10567205 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | X | 10482571 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10495619 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10495692 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10449491 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10449647 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10454913 | stop gained | -/CAAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10455071 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10459700 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10459732 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10449455 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10454966 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10454978 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10459777 | inframe deletion | ATC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10523136 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10449709 | missense variant | T/C;G | snv | 5.6E-06; 1.7E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | X | 10449573 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 10455042 | stop gained | G/A | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.280 | 6 | 44228841 | intron variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2014 | 2014 |