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 | 4 | 17511987 | missense variant | C/T | snv | 1.4E-05 | 0.810 | 1.000 | 6 | 1990 | 2007 | ||||
|
1 | 1.000 | 0.120 | 4 | 17492305 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 1990 | 2015 | ||||
|
1 | 1.000 | 0.120 | 4 | 17501833 | missense variant | A/C | snv | 0.800 | 1.000 | 5 | 1990 | 2000 | |||||
|
1 | 1.000 | 0.120 | 4 | 17509363 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 1990 | 2000 | |||||
|
1 | 1.000 | 0.120 | 4 | 17492328 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 1990 | 2000 | |||||
|
1 | 1.000 | 0.120 | 4 | 17512002 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1990 | 2000 | |||||
|
1 | 1.000 | 0.120 | 4 | 17512014 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 1990 | 2000 | |||||
|
1 | 1.000 | 0.120 | 4 | 17492269 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 5 | 1990 | 2000 | |||
|
1 | 1.000 | 0.120 | 4 | 17487231 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 1990 | 2000 | ||||
|
1 | 1.000 | 0.120 | 4 | 17492332 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 17504404 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 17504453 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 17512007 | stop gained | G/C | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 17509272 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 17501811 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 17512006 | missense variant | C/G | snv | 8.5E-06 | 1.4E-05 | 0.700 | 0 |