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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.080 | 16 | 8768248 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 0.080 | 16 | 8781360 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 0.080 | 16 | 8750498 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 0.080 | 2 | 240788182 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.080 | 12 | 53309624 | missense variant | A/G | snv | 1.2E-04 | 4.9E-05 | 0.700 | 0 | ||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
23 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | 16 | 682729 | 3 prime UTR variant | T/C | snv | 0.700 | 0 | ||||||||
|
24 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.200 | 2 | 162273913 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.080 | 16 | 8768220 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 11 | 68906074 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
24 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 |