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 | 0.827 | 0.200 | 8 | 142875012 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.040 | 1.000 | 4 | 1991 | 2010 | |||
|
2 | 0.925 | 0.200 | 8 | 142912592 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 8 | 142879623 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 8 | 142912585 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1991 | 1991 | |||
|
2 | 0.925 | 0.200 | 8 | 142912570 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.200 | 8 | 142877191 | missense variant | G/A | snv | 1.6E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.240 | 8 | 142874997 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 8 | 142875767 | stop gained | G/A | snv | 5.6E-05 | 3.1E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.200 | 8 | 142875838 | missense variant | C/T | snv | 4.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.240 | 8 | 142876278 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.200 | 8 | 142876299 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.200 | 8 | 142876267 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.200 | 8 | 142879627 | missense variant | C/G | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 6 | 32040183 | missense variant | T/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.200 | 8 | 142917654 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 8 | 142877197 | stop gained | G/A | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |