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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 16 | 57962611 | splice acceptor variant | C/G;T | snv | 4.0E-06; 7.2E-05 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 16 | 57901371 | missense variant | T/A | snv | 1.1E-03 | 1.1E-03 | 0.700 | 1.000 | 3 | 2011 | 2019 | |||
|
1 | 1.000 | 0.080 | 16 | 57916161 | stop gained | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 57897911 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57903940 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57959886 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57964482 | splice region variant | C/G;T | snv | 4.8E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 57904843 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57959985 | stop gained | G/A;T | snv | 4.8E-06; 4.8E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 57897496 | frameshift variant | -/CACC | delins | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 57915268 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 16 | 57964158 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 57963056 | missense variant | C/A;T | snv | 5.2E-05; 0.78 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 57963028 | synonymous variant | G/A | snv | 0.43 | 0.37 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 16 | 57964163 | missense variant | C/A;G;T | snv | 8.0E-06; 8.0E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 |