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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 12 | 51807100 | missense variant | C/G;T | snv | 0.720 | 1.000 | 2 | 2019 | 2020 | |||||
|
1 | 1.000 | 0.040 | 1 | 244859303 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 244855505 | frameshift variant | AG/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | 17 | 81715568 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 39505705 | missense variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 1 | 244863648 | frameshift variant | GCCTTCCGCC/- | delins | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 20 | 63442420 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 20 | 63439624 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | X | 18604394 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 78432614 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 72195389 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 12 | 23665471 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127673233 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 48905400 | frameshift variant | CACTGCAGCC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 15 | 82679729 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 15 | 82680174 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 49115756 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 2 | 165386837 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165344679 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165374743 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165310376 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 166043864 | missense variant | C/G | snv | 0.700 | 0 |