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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 20 | 44406076 | missense variant | G/A | snv | 8.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.080 | 20 | 44414531 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.040 | 20 | 44414567 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
5 | 0.851 | 0.080 | 20 | 44413714 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
5 | 0.882 | 0.080 | 20 | 44406084 | missense variant | C/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
2 | 1.000 | 0.040 | 20 | 44413780 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.925 | 0.080 | 20 | 44428840 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 20 | 44418452 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 |