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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 1.000 | X | 71132465 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
5 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 0.700 | 0 | |||||||||
|
5 | 11 | 64298178 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
5 | 1 | 22086463 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
4 | 1.000 | X | 153693971 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
5 | 11 | 64297507 | missense variant | C/A | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 | 0.700 | 0 | ||||||||
|
4 | 1.000 | 11 | 30336665 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
4 | 1.000 | X | 41343802 | stop gained | G/A;T | snv | 5.6E-06 | 0.700 | 0 | ||||||||
|
3 | 1.000 | 16 | 9763169 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 20 | 13534116 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.040 | 16 | 78424869 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.080 | 19 | 43747509 | frameshift variant | GG/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.080 | 19 | 43744768 | splice region variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.080 | 1 | 22086507 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | 1 | 22086856 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 | 0.700 | 0 |