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 | 0.040 | 19 | 38586140 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.800 | 1.000 | 3 | 1991 | 2017 | |||
|
4 | 0.851 | 0.160 | 19 | 38496283 | missense variant | C/G;T | snv | 2.0E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.040 | 19 | 38534774 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 2.1E-05 | 0.800 | 1.000 | 0 | 1991 | 2017 | |||
|
4 | 0.851 | 0.160 | 19 | 38523116 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 19 | 38573304 | missense variant | C/T | snv | 4.4E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.200 | 19 | 38502879 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 19 | 38485838 | missense variant | C/T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 19 | 38523211 | splice region variant | C/G | snv | 2.0E-05 | 9.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 19 | 38543821 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 19 | 38496466 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-04 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 19 | 38543420 | stop gained | C/A | snv | 2.4E-05 | 3.5E-05 | 0.700 | 0 |