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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.200 | 11 | 2768861 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.120 | 11 | 2776991 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 3 | 38606034 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
33 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
33 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 |