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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
12 | 0.790 | 0.320 | 16 | 8811660 | missense variant | T/C | snv | 2.9E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
16 | 0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
18 | 0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.360 | 16 | 8811088 | stop gained | C/A;T | snv | 4.4E-05; 5.4E-06 | 0.700 | 0 | |||||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 19 | 12940307 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |