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 | 0.080 | 3 | 47005833 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 3 | 46993986 | missense variant | T/C | snv | 0.800 | 1.000 | 3 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 3 | 46995743 | missense variant | A/T | snv | 0.800 | 1.000 | 3 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 3 | 47004976 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 3 | 47005950 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 3 | 47002994 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 46995528 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 47000180 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 46991644 | stop gained | C/G | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 46997310 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 47003012 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 46995558 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 47002750 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
9 | 0.790 | 0.120 | X | 48792371 | missense variant | G/A | snv | 9.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |