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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 10 | 43100662 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 2 | 219060317 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
6 | 0.882 | 0.200 | 10 | 43111219 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.080 | 10 | 43124887 | missense variant | C/T | snv | 1.9E-02 | 1.6E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 10 | 43119626 | missense variant | G/A | snv | 5.2E-05 | 2.1E-05 | 0.700 | 0 | |||||||
|
3 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 0.700 | 0 | |||||||
|
1 | 0.925 | 0.080 | 10 | 43113623 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 10 | 43114547 | synonymous variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 0.882 | 0.080 | 10 | 43120192 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 22 | 38016774 | intron variant | G/C | snv | 9.5E-04 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 43105158 | missense variant | A/G | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 10 | 43105077 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 22 | 38016208 | intron variant | G/A | snv | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 43109201 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 10 | 43102344 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 43118381 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 43114541 | synonymous variant | C/T | snv | 9.6E-05 | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 10 | 70781921 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 10 | 43102542 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 43111210 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 43100480 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 10 | 43102410 | stop gained | G/A;T | snv | 8.8E-05 | 0.700 | 0 | ||||||||
|
14 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 0.882 | 0.080 | 10 | 43105018 | missense variant | G/A | snv | 0.700 | 0 |