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 | 0.120 | 2 | 174944942 | missense variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 2 | 174878011 | missense variant | A/C | snv | 7.0E-06 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 2 | 174877962 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 2 | 174824478 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 2 | 174824464 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 2 | 174812440 | missense variant | G/T | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 2 | 174811538 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 20 | 40688048 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 20 | 40688411 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 20 | 40688207 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 0.120 | 2 | 174824485 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 174877967 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 174812441 | missense variant | G/A | snv | 0.700 | 0 |