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 | 0.160 | 15 | 48430785 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 15 | 48488481 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48487317 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48415588 | stop gained | C/A;T | snv | 2.0E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 2 | 188988083 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 188994066 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 189084028 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 30674109 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 3 | 123707752 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 9 | 99144730 | splice acceptor variant | A/C;G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 99146610 | splice donor variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 99147701 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 9 | 134785008 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 14 | 75961030 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 15 | 48411101 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48411159 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48412622 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48415545 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 15 | 48415631 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48415666 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 15 | 48420718 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48425424 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48425450 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48427679 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48428377 | frameshift variant | A/- | delins | 0.700 | 0 |