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 | 5 | 137625803 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 5 | 137637295 | splice region variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 5 | 137709761 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 137709759 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 137698396 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137692320 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137639955 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137639862 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 137639012 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137637320 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137637317 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137628408 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137628387 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137628306 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137628305 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 137692381 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 137639916 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 137639874 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 137637386 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 137634077 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 137661947 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 137661914 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 224503850 | non coding transcript exon variant | A/C | snv | 6.7E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 224503848 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 224503834 | non coding transcript exon variant | A/C | snv | 0.700 | 0 |