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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 20 | 63446778 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 20 | 63444762 | missense variant | G/A;C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 20 | 63433851 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.851 | 0.080 | 20 | 63413472 | stop gained | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 8 | 132175461 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 20 | 63407152 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 1 | 160135246 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.925 | 0.080 | 20 | 63439674 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 20 | 63444709 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
8 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.827 | 0.120 | 20 | 63444730 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.120 | 19 | 13298829 | missense variant | C/T | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.080 | 20 | 63414092 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |