| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.160 | 3 | 122257323 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
|
6 | 0.807 | 0.280 | 10 | 8073746 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
10 | 0.851 | 0.280 | 16 | 16169667 | missense variant | C/G;T | snv | 4.1E-06; 2.5E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 6 | 10876442 | splice donor variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 26284898 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 6 | 10877343 | missense variant | C/A;T | snv | 2.0E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.040 | 6 | 10877296 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.240 | 10 | 8073747 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 3 | 122282135 | missense variant | G/A;T | snv | 8.7E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 26204107 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 3 | 122284388 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.925 | 0.040 | 11 | 13492788 | stop gained | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.240 | 2 | 26284908 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 6 | 10877155 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 |