| 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 | 11 | 2588801 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 38606034 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 1 | 203700807 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 6 | 38737083 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 20 | 33412702 | missense variant | G/A | snv | 1.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 11 | 2572102 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.120 | 7 | 150947708 | missense variant | G/C | snv | 2.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.120 | 11 | 2583472 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.120 | 5 | 102419940 | missense variant | G/A | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.120 | 3 | 38587437 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 7 | 150958319 | missense variant | T/A | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | |||||
|
3 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 1.000 | 0.120 | 11 | 2776991 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 11 | 2583486 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.925 | 0.120 | 7 | 150946956 | missense variant | G/A;C | snv | 4.8E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 12 | 2593255 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.040 | 2 | 88096710 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 15 | 73325378 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.925 | 0.200 | 11 | 2768861 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.120 | 11 | 2570722 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |