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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 11 | 103479158 | missense variant | A/G | snv | 2.8E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103188633 | missense variant | G/A;C;T | snv | 8.2E-06; 8.2E-06; 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 103177664 | missense variant | G/A | snv | 1.6E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 103192219 | missense variant | G/A;C | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103170226 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103179151 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103199333 | missense variant | G/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103304608 | missense variant | A/G | snv | 2.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103435986 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103286264 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103120965 | missense variant | G/A | snv | 9.1E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 11 | 103255530 | missense variant | T/C | snv | 1.9E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 103116573 | missense variant | T/A | snv | 1.3E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103135514 | missense variant | T/C;G | snv | 4.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103125195 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 103177665 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103200154 | missense variant | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.120 | 11 | 103287559 | synonymous variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103307833 | splice donor variant | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 11 | 103179234 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 11 | 103203777 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 103173307 | splice donor variant | T/C | snv | 1.1E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 103223087 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 103143396 | splice donor variant | G/A | snv | 0.700 | 0 |