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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.716 | 0.400 | 12 | 47978329 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 47978389 | missense variant | C/T | snv | 0.800 | 1.000 | 8 | 1989 | 2007 | |||||
|
2 | 0.925 | 0.080 | 12 | 47980017 | missense variant | C/G | snv | 0.800 | 1.000 | 8 | 1989 | 2007 | |||||
|
1 | 1.000 | 0.080 | 12 | 47985946 | missense variant | C/T | snv | 0.800 | 1.000 | 8 | 1989 | 2007 | |||||
|
15 | 0.708 | 0.400 | 12 | 47983721 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 47985771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 80118690 | frameshift variant | AGGGA/- | del | 4.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
2 | 0.925 | 0.080 | 12 | 47980621 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
1 | 1.000 | 0.080 | 12 | 47978042 | inframe deletion | CACGGGGCCAGGAGGACC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 47983699 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 47985956 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1989 | 2007 | |||||
|
1 | 1.000 | 0.080 | 12 | 47985726 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
14 | 0.716 | 0.400 | 12 | 47999953 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 47986343 | missense variant | C/A;T | snv | 0.700 | 0 |