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 | 0.120 | 2 | 113218569 | synonymous variant | T/C | snv | 2.4E-03 | 2.9E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 2 | 113241654 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 2 | 113244466 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | 2 | 113246826 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
6 | 0.807 | 0.200 | 8 | 132906843 | missense variant | T/C | snv | 1.6E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 1998 | 2004 | |||
|
5 | 0.827 | 0.200 | 8 | 132971804 | missense variant | T/A | snv | 0.020 | 1.000 | 2 | 1999 | 2004 | |||||
|
4 | 0.851 | 0.160 | 8 | 133017916 | missense variant | C/A | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 8 | 133022135 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 1414421 | missense variant | G/A;T | snv | 8.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 2 | 1477221 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 2 | 1477425 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 1487841 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 2 | 1487905 | missense variant | C/T | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 1493976 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 2 | 1540594 | stop gained | G/A;T | snv | 1.2E-05; 2.0E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 19 | 17877840 | stop gained | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 15 | 45095881 | missense variant | G/A | snv | 5.9E-04 | 3.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 15 | 45097691 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 15 | 45099838 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 15 | 45101228 | frameshift variant | ACGA/- | delins | 2.9E-03 | 2.6E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 15 | 45103960 | missense variant | C/A;T | snv | 4.1E-04; 1.2E-04 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 15 | 45106225 | missense variant | C/A;T | snv | 3.4E-04; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 15 | 45106254 | frameshift variant | -/T | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |