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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 89003108 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 172659460 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 10 | 89014191 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 1999 | 2011 | |||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2006 | 2014 | |||||
|
2 | 0.925 | 0.160 | 10 | 89012082 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 2000 | 2012 | |||||
|
3 | 0.882 | 0.160 | 2 | 201208114 | missense variant | C/T | snv | 2.4E-05 | 2.0E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.280 | 12 | 25225709 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv | 0.720 | 1.000 | 2 | 2017 | 2018 | |||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 201209363 | missense variant | A/C;T | snv | 4.5E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 89014196 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 1999 | 2013 |