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 | 4 | 1003108 | missense variant | G/A;C | snv | 0.800 | 1.000 | 8 | 1993 | 2015 | |||||
|
4 | 0.851 | 0.120 | 4 | 987916 | missense variant | G/A | snv | 9.2E-06 | 7.0E-06 | 0.730 | 1.000 | 10 | 1993 | 2019 | |||
|
5 | 0.851 | 0.120 | 4 | 1002747 | stop gained | G/A | snv | 5.9E-04 | 8.4E-04 | 0.710 | 1.000 | 6 | 1992 | 2014 | |||
|
7 | 0.807 | 0.320 | 4 | 1003418 | missense variant | C/G;T | snv | 5.6E-05 | 0.710 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.120 | 4 | 1003102 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 1993 | 2015 | ||||
|
1 | 1.000 | 0.120 | 4 | 1001745 | missense variant | G/A;C | snv | 0.700 | 1.000 | 8 | 1993 | 2015 | |||||
|
2 | 0.925 | 0.120 | 4 | 1002444 | missense variant | G/A | snv | 3.3E-05 | 7.0E-06 | 0.700 | 1.000 | 8 | 1993 | 2015 | |||
|
2 | 0.925 | 0.120 | 4 | 987915 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 8 | 1993 | 2015 | ||||
|
3 | 0.882 | 0.120 | 4 | 1002435 | missense variant | A/G | snv | 1.8E-05 | 7.0E-06 | 0.700 | 1.000 | 8 | 1993 | 2015 | |||
|
6 | 0.827 | 0.280 | 4 | 987858 | stop gained | C/T | snv | 4.7E-04 | 6.1E-04 | 0.700 | 1.000 | 3 | 1992 | 2013 | |||
|
3 | 0.882 | 0.120 | 4 | 1002340 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 4 | 1001672 | splice region variant | G/A;C | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 987877 | missense variant | A/G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 987137 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 1002811 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 4 | 1002748 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 1993 | 1993 |