| 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 | 8 | 1780512 | missense variant | A/G;T | snv | 2.0E-05; 3.3E-04 | 0.800 | 1.000 | 7 | 2004 | 2016 | ||||
|
5 | 0.851 | 0.160 | 8 | 1780498 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 8 | 1780495 | missense variant | G/C | snv | 0.800 | 1.000 | 7 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 1780472 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1780469 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2017 | ||||
|
1 | 1.000 | 0.120 | 8 | 1780415 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 8 | 1780367 | missense variant | G/A | snv | 4.4E-05 | 3.5E-05 | 0.700 | 1.000 | 7 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 8 | 1780339 | inframe deletion | TGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1780326 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 1780317 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 7 | 2004 | 2016 | ||||
|
3 | 0.882 | 0.120 | 8 | 1780316 | missense variant | C/T | snv | 3.2E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 8 | 1780299 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1780287 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 1780265 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.120 | 8 | 1780248 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771598 | splice donor variant | G/T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 8 | 1771563 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 8 | 1771553 | stop gained | G/C;T | snv | 8.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.120 | 8 | 1771527 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 7 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 8 | 1771524 | missense variant | A/G | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 8 | 1771518 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771469 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 1771452 | stop gained | T/A;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 8 | 1771428 | missense variant | A/C;G;T | snv | 9.7E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 8 | 1771374 | missense variant | T/G | snv | 0.800 | 1.000 | 7 | 2004 | 2016 |