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 | 0.200 | 1 | 160041938 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 160042457 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.320 | 1 | 160042339 | missense variant | C/G;T | snv | 8.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.200 | 1 | 160042115 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.200 | 1 | 160042042 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.200 | 1 | 160042033 | missense variant | G/A | snv | 9.6E-06 | 7.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2014 | |||
|
1 | 1.000 | 0.200 | 1 | 160041644 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.200 | 1 | 160042304 | missense variant | C/G | snv | 0.800 | 1.000 | 4 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.200 | 1 | 160042148 | missense variant | T/A;C | snv | 4.3E-06 | 0.700 | 1.000 | 4 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.200 | 1 | 160042340 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 1 | 160042308 | missense variant | A/C;G | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 1 | 160041758 | frameshift variant | C/- | delins | 0.700 | 0 |