| 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 | 0.080 | 12 | 52306270 | missense variant | G/A | snv | 0.810 | 1.000 | 6 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.080 | 12 | 52287112 | missense variant | C/T | snv | 8.0E-06 | 0.810 | 1.000 | 4 | 1997 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 52306272 | missense variant | G/T | snv | 0.800 | 1.000 | 5 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.080 | 12 | 52306237 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 1997 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 52315936 | stop gained | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 2 | 2005 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 52315903 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 52287145 | missense variant | C/G;T | snv | 4.9E-04 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 52302256 | missense variant | A/C;G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 52288038 | stop gained | A/G;T | snv | 8.0E-06; 1.1E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 52302269 | missense variant | C/A;T | snv | 6.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 52287127 | missense variant | G/A | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 18 | 31392303 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |