| 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 | 3 | 183041719 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 183041609 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 3 | 183020177 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 3 | 183071208 | splice donor variant | A/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 183071122 | splice acceptor variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 183045516 | stop gained | G/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 183041570 | frameshift variant | -/C | delins | 4.0E-05; 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2001 | 2005 | |||
|
1 | 1.000 | 0.120 | 3 | 183057358 | missense variant | A/C;G | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 183071290 | missense variant | A/G;T | snv | 2.4E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 183037286 | frameshift variant | C/- | del | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2005 | 2012 | |||
|
1 | 1.000 | 0.120 | 3 | 183052169 | stop gained | A/G;T | snv | 4.1E-04; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 183072469 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 11 | 2001 | 2016 | |||
|
2 | 0.925 | 0.120 | 3 | 183045522 | missense variant | A/C | snv | 1.6E-05 | 5.6E-05 | 0.800 | 1.000 | 3 | 2001 | 2015 | |||
|
1 | 1.000 | 0.120 | 3 | 183057342 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 11 | 2001 | 2016 | |||
|
1 | 1.000 | 0.120 | 3 | 183099440 | start lost | T/C | snv | 1.8E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 183041720 | stop gained | G/A | snv | 2.4E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 3 | 183041738 | missense variant | C/T | snv | 2.4E-05 | 0.700 | 1.000 | 11 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 183057321 | missense variant | T/C | snv | 2.5E-05 | 1.4E-05 | 0.700 | 1.000 | 11 | 2001 | 2016 | |||
|
1 | 1.000 | 0.120 | 3 | 183039072 | missense variant | C/T | snv | 2.8E-05 | 3.5E-05 | 0.700 | 1.000 | 11 | 2001 | 2016 | |||
|
1 | 1.000 | 0.120 | 3 | 183039101 | missense variant | A/C;G | snv | 4.0E-05 | 1.1E-04 | 0.700 | 1.000 | 11 | 2001 | 2016 | |||
|
1 | 1.000 | 0.120 | 3 | 183092545 | missense variant | C/T | snv | 4.0E-05 | 3.5E-05 | 0.700 | 1.000 | 11 | 2001 | 2016 | |||
|
1 | 1.000 | 0.120 | 3 | 183057343 | stop gained | G/A | snv | 4.5E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 183092486 | missense variant | G/A | snv | 6.4E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 183041679 | missense variant | T/G | snv | 1.3E-04 | 7.7E-05 | 0.800 | 1.000 | 9 | 2001 | 2015 | |||
|
1 | 1.000 | 0.120 | 3 | 183057312 | missense variant | G/A | snv | 1.4E-04 | 1.0E-04 | 0.700 | 1.000 | 11 | 2001 | 2016 |