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 | 0.120 | 17 | 50190045 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | 17 | 50190861 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 15 | 1989 | 2008 | ||||
|
2 | 0.925 | 0.160 | 17 | 50191463 | missense variant | C/T | snv | 0.800 | 1.000 | 16 | 1989 | 2015 | |||||
|
7 | 0.790 | 0.240 | 17 | 50191826 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.240 | 17 | 50195288 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50195931 | missense variant | C/G | snv | 0.700 | 1.000 | 15 | 1989 | 2008 | |||||
|
8 | 0.776 | 0.240 | 17 | 50196163 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1989 | 2008 | |||||
|
1 | 1.000 | 0.120 | 17 | 50197053 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50190578 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 7 | 94409795 | missense variant | G/A;C;T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94409778 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 17 | 50190099 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.240 | 17 | 50194375 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50188592 | missense variant | C/T | snv | 0.700 | 1.000 | 15 | 1989 | 2008 | |||||
|
1 | 1.000 | 0.120 | 7 | 94425832 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.776 | 0.240 | 7 | 94410457 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50189876 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.120 | 17 | 50188131 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50191805 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 7 | 94419499 | missense variant | G/A;C;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 15 | 1991 | 2006 | |||
|
3 | 0.882 | 0.120 | 7 | 94410251 | missense variant | G/A;T | snv | 0.700 | 1.000 | 15 | 1991 | 2006 | |||||
|
3 | 0.882 | 0.120 | 7 | 94410278 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.240 | 7 | 94409768 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50192993 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
31 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 0.700 | 0 |