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 | 7 | 128775556 | missense variant | C/T | snv | 3.3E-04 | 1.7E-04 | 0.800 | 1.000 | 3 | 1992 | 2012 | |||
|
1 | 1.000 | 0.120 | 7 | 128774545 | missense variant | A/C;G | snv | 3.2E-05; 1.2E-05 | 0.800 | 1.000 | 3 | 1992 | 2012 | ||||
|
3 | 0.925 | 0.120 | 7 | 128773786 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 0.800 | 1.000 | 3 | 1992 | 2012 | |||
|
1 | 1.000 | 0.120 | 5 | 218363 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 128774616 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 1 | 161314408 | start lost | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.240 | 1 | 17054012 | missense variant | G/A;C | snv | 4.1E-06; 3.1E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.240 | 11 | 112088869 | frameshift variant | G/- | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.790 | 0.280 | 11 | 112086910 | start lost | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2005 | 2005 |