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 | 1 | 146018204 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.120 | 3 | 149177980 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 3 | 149178537 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.440 | 11 | 34461361 | synonymous variant | C/T | snv | 0.25 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 22 | 37066133 | missense variant | C/T | snv | 8.0E-03 | 8.6E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 22 | 37066196 | missense variant | G/A | snv | 2.0E-05 | 4.2E-05 | 0.700 | 1.000 | 12 | 2008 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 37066223 | missense variant | G/C | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 12 | 2008 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 37066942 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 22 | 37069072 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 37069154 | frameshift variant | -/GGGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 37069307 | frameshift variant | -/GC | delins | 8.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 22 | 37070539 | frameshift variant | CC/-;C;CCC | delins | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 22 | 37070545 | missense variant | C/A;G | snv | 3.2E-05; 5.6E-05 | 0.720 | 1.000 | 13 | 2008 | 2018 | ||||
|
1 | 1.000 | 0.080 | 22 | 37070557 | stop gained | G/A | snv | 5.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 37070563 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 12 | 2008 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 37070584 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 37073531 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 22 | 37073550 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 12 | 2008 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 37073553 | missense variant | C/T | snv | 2.8E-05 | 6.3E-05 | 0.800 | 1.000 | 12 | 2008 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 37075180 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 0.800 | 1.000 | 12 | 2008 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 37075251 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 37084339 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 37084775 | stop gained | G/T | snv | 5.6E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 37086372 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 37089581 | missense variant | G/T | snv | 1.4E-05 | 0.700 | 1.000 | 12 | 2008 | 2015 |