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 | 0.200 | 1 | 11157242 | missense variant | A/G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 11157255 | missense variant | A/C | snv | 0.800 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 16 | 2074394 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 9 | 132921418 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 9 | 132906053 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 9 | 132903785 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 9 | 132911110 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 16 | 2050487 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 16 | 2064286 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 16 | 2070571 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 16 | 2070570 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 16 | 2064341 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 16 | 2072879 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 16 | 2088117 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 16 | 2088293 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 11238533 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.240 | 1 | 11157174 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2015 | 2016 | |||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2015 | 2016 | |||||
|
9 | 0.776 | 0.240 | 1 | 11124516 | missense variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2015 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 11139308 | missense variant | C/T | snv | 8.2E-06 | 2.1E-05 | 0.700 | 1.000 | 4 | 2015 | 2016 | |||
|
1 | 1.000 | 0.080 | 14 | 104775774 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.200 | 7 | 151490963 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 9 | 132921872 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 11114338 | missense variant | A/G;T | snv | 0.810 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 9715706 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |