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 | 0.882 | 0.200 | 8 | 142876242 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.200 | 8 | 142879146 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.200 | 8 | 142875730 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.200 | 10 | 102832566 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.240 | 10 | 102831535 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.160 | 1 | 11970750 | stop gained | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
2 | 0.925 | 0.200 | 8 | 142875013 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.240 | 8 | 142876243 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.827 | 0.200 | 8 | 142875012 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.200 | 10 | 102831525 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.240 | 8 | 142876278 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.200 | 10 | 102832610 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.200 | 8 | 142874419 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.200 | 10 | 102830742 | missense variant | C/A;T | snv | 4.1E-06; 8.3E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.200 | 19 | 41012795 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |