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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
28 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 3 | 122284413 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.925 | 0.080 | 19 | 3121122 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 19 | 3115009 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.040 | 11 | 13492788 | stop gained | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.925 | 0.160 | 11 | 59153374 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 3 | 122284388 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 1.000 | 0.080 | 21 | 34370507 | missense variant | C/T | snv | 2.5E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.080 | 3 | 122262113 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 2 | 236581483 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 5 | 136053080 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |