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 | 0.925 | 0.120 | 13 | 50945470 | missense variant | T/G | snv | 0.800 | 1.000 | 4 | 2006 | 2011 | |||||
|
1 | 1.000 | 0.120 | 13 | 50943369 | missense variant | A/C | snv | 0.700 | 1.000 | 4 | 2006 | 2011 | |||||
|
1 | 1.000 | 0.120 | 13 | 50930685 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2006 | 2011 | |||||
|
1 | 1.000 | 0.120 | 13 | 50943360 | missense variant | G/T | snv | 0.700 | 1.000 | 4 | 2006 | 2011 | |||||
|
1 | 1.000 | 0.120 | 13 | 50948055 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2011 | ||||
|
1 | 1.000 | 0.120 | 13 | 50943372 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2011 | |||
|
1 | 1.000 | 0.120 | 13 | 50927478 | splice donor variant | G/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 13 | 50927462 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 50948037 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 50949483 | stop gained | C/G;T | snv | 1.2E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 50929517 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 50945463 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 50948025 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 50930695 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 50929556 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 50934919 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 50934975 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 13 | 50927470 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.776 | 0.360 | 13 | 50945445 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 | 0.800 | 1.000 | 14 | 2006 | 2017 |