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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.160 | 16 | 3508407 | missense variant | T/G | snv | 1.3E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.160 | 16 | 3520011 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 18 | 33742954 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
16 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
15 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.200 | 2 | 199308845 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
19 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.320 | 9 | 2115927 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | X | 17687870 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 0.700 | 0 |