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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 16 | 67436251 | missense variant | G/A | snv | 4.8E-05 | 1.4E-05 | 0.810 | 1.000 | 13 | 1995 | 2018 | |||
|
1 | 1.000 | 0.080 | 16 | 67436100 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 12 | 1995 | 2007 | ||||
|
1 | 1.000 | 0.080 | 16 | 67436794 | missense variant | C/A;T | snv | 1.6E-05 | 0.800 | 1.000 | 12 | 1995 | 2007 | ||||
|
1 | 1.000 | 0.080 | 16 | 67436115 | missense variant | C/A;T | snv | 0.800 | 1.000 | 12 | 1995 | 2007 | |||||
|
1 | 1.000 | 0.080 | 16 | 67436101 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.800 | 1.000 | 12 | 1995 | 2007 | |||
|
1 | 1.000 | 0.080 | 16 | 67436620 | missense variant | C/T | snv | 0.800 | 1.000 | 12 | 1995 | 2007 | |||||
|
1 | 1.000 | 0.080 | 16 | 67436797 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 12 | 1995 | 2007 | ||||
|
1 | 1.000 | 0.080 | 16 | 67436768 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1995 | 2007 | ||||
|
1 | 1.000 | 0.080 | 16 | 67436294 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 67436156 | intron variant | C/A;G;T | snv | 1.6E-05; 9.3E-05; 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 67436795 | inframe deletion | GCT/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 16 | 67436034 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 67436678 | inframe deletion | TAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 67431325 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 67431469 | missense variant | G/A;T | snv | 8.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |