| 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 | 0.851 | 0.120 | 19 | 38457545 | missense variant | C/G;T | snv | 8.7E-05 | 1.1E-04 | 0.020 | 1.000 | 2 | 1996 | 2001 | |||
|
4 | 0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 12 | 4912627 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.120 | 19 | 38500636 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.120 | 19 | 38455359 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.882 | 0.080 | 17 | 10650374 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 19 | 38448712 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.925 | 0.080 | 1 | 201060815 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
4 | 0.851 | 0.160 | 1 | 156136951 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.851 | 0.120 | 12 | 4912055 | missense variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | X | 32364661 | missense variant | G/C | snv | 1.1E-05 | 9.5E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 5 | 156508620 | missense variant | G/C | snv | 3.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |