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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 11 | 2572895 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
17 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 0.020 | 1.000 | 2 | 2011 | 2017 | |||||
|
5 | 0.851 | 0.120 | 17 | 70175263 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 1.000 | 0.080 | 2 | 47161833 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 11 | 2572089 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 1.000 | 0.120 | 6 | 38737083 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.200 | 11 | 2768861 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.120 | 11 | 2776991 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.120 | 11 | 2572102 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.120 | 11 | 2583486 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.240 | 11 | 2571328 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.120 | 11 | 2570722 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 1.000 | 0.120 | 11 | 2583472 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 12 | 2593255 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 3 | 38606034 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
33 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
13 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 |