| 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 | 2 | 151496992 | frameshift variant | GTAG/- | delins | 5.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 15 | 63042852 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2002 | 2004 | |||||
|
4 | 0.851 | 0.120 | 9 | 35685672 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.120 | 19 | 38584989 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 1 | 229432660 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 1 | 154172971 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 229432619 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 1.000 | 0.080 | 7 | 5529540 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.080 | 9 | 35689265 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.080 | 1 | 154173113 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 229432788 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 1 | 229432787 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 15 | 65078037 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.280 | 7 | 5529175 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 15 | 63061774 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.080 | 3 | 42688963 | missense variant | A/C;G | snv | 9.5E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 229432087 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |