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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 17 | 41624247 | missense variant | A/G;T | snv | 0.820 | 1.000 | 18 | 1995 | 2013 | |||||
|
3 | 0.882 | 0.080 | 17 | 41624235 | missense variant | T/C | snv | 0.810 | 1.000 | 19 | 1995 | 2013 | |||||
|
2 | 0.925 | 0.080 | 17 | 41624236 | missense variant | T/C;G | snv | 0.800 | 1.000 | 18 | 1995 | 2013 | |||||
|
2 | 0.925 | 0.080 | 17 | 41624229 | missense variant | C/G;T | snv | 0.800 | 1.000 | 18 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 41624226 | missense variant | A/G;T | snv | 0.800 | 1.000 | 18 | 1995 | 2013 | |||||
|
2 | 0.925 | 0.080 | 17 | 41624218 | missense variant | A/C | snv | 0.800 | 1.000 | 18 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 41624214 | missense variant | A/G | snv | 0.800 | 1.000 | 18 | 1995 | 2013 | |||||
|
2 | 0.925 | 0.080 | 17 | 41624230 | missense variant | G/A | snv | 1.4E-05 | 0.800 | 1.000 | 18 | 1995 | 2013 | ||||
|
2 | 0.925 | 0.080 | 17 | 41624185 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 18 | 1995 | 2013 | |||
|
1 | 1.000 | 0.080 | 17 | 41624218 | inframe deletion | AGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 41620677 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 41624215 | splice donor variant | AGGAGGCCAGGCGGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 41624206 | missense variant | C/T | snv | 0.700 | 0 |