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 | 0.120 | 7 | 150951555 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 1999 | 2015 | |||||
|
3 | 0.882 | 0.120 | 11 | 2572104 | missense variant | C/T | snv | 4.1E-06 | 0.700 | 1.000 | 12 | 2000 | 2015 | ||||
|
3 | 0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv | 0.700 | 1.000 | 11 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 2572846 | missense variant | GA/TT | mnv | 0.700 | 1.000 | 10 | 1999 | 2016 | |||||
|
2 | 0.925 | 0.120 | 11 | 2777000 | missense variant | T/C;G | snv | 0.700 | 1.000 | 9 | 2005 | 2015 | |||||
|
5 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 0.700 | 1.000 | 9 | 1998 | 2015 | |||||
|
2 | 0.925 | 0.120 | 7 | 150974809 | missense variant | T/C | snv | 0.700 | 1.000 | 9 | 1999 | 2014 | |||||
|
6 | 0.807 | 0.120 | 11 | 2768917 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 9 | 2001 | 2014 | |||
|
2 | 0.925 | 0.120 | 11 | 2570719 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 8 | 1996 | 2014 | ||||
|
4 | 0.851 | 0.120 | 11 | 2570670 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 8 | 1997 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 2776033 | missense variant | G/A;T | snv | 2.3E-05; 5.7E-06 | 0.700 | 1.000 | 8 | 1997 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 150950312 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 2000 | 2018 | ||||
|
3 | 0.882 | 0.120 | 7 | 150948981 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 2000 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 2570652 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2015 | ||||
|
5 | 0.827 | 0.120 | 11 | 2527962 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2005 | 2015 | |||||
|
7 | 0.790 | 0.120 | 11 | 2572021 | missense variant | G/A;T | snv | 0.700 | 1.000 | 7 | 2004 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 2572056 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 2572871 | missense variant | G/A;T | snv | 0.700 | 1.000 | 6 | 1997 | 2007 | |||||
|
1 | 1.000 | 0.120 | 21 | 34449430 | frameshift variant | TGGA/- | del | 0.700 | 1.000 | 6 | 1997 | 2014 | |||||
|
3 | 0.925 | 0.120 | 11 | 2572105 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 6 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 2768900 | missense variant | T/G | snv | 0.700 | 1.000 | 6 | 2003 | 2013 | |||||
|
2 | 0.925 | 0.120 | 7 | 150951568 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 6 | 2000 | 2016 | |||||
|
2 | 0.925 | 0.120 | 11 | 2847859 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 6 | 1999 | 2014 | |||||
|
5 | 0.827 | 0.200 | 12 | 2504526 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2005 | 2016 | |||||
|
1 | 1.000 | 0.120 | 11 | 2661960 | splice acceptor variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1997 | 2016 |