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 | 0.882 | 0.200 | 2 | 47800283 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.200 | 2 | 47800914 | stop gained | C/A;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
3 | 0.882 | 0.200 | 2 | 47783292 | missense variant | C/A;T | snv | 4.1E-06; 9.4E-05 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
8 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
5 | 0.882 | 0.240 | 2 | 47801050 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 47800685 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.240 | 2 | 47801086 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.240 | 2 | 47806359 | splice donor variant | G/T | snv | 7.0E-06 | 0.700 | 0 |