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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.320 | 6 | 32039426 | missense variant | T/A | snv | 4.8E-04 | 1.2E-03 | 0.050 | 1.000 | 5 | 2005 | 2019 | |||
|
21 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.040 | 0.750 | 4 | 2007 | 2019 | ||||
|
5 | 0.827 | 0.240 | 6 | 32040421 | stop gained | C/T | snv | 3.6E-03 | 0.040 | 1.000 | 4 | 2004 | 2019 | ||||
|
8 | 0.776 | 0.320 | 6 | 32038514 | missense variant | C/T | snv | 9.2E-05 | 5.4E-04 | 0.040 | 1.000 | 4 | 2005 | 2019 | |||
|
3 | 0.882 | 0.200 | 6 | 32040535 | missense variant | C/T | snv | 7.0E-05 | 0.030 | 1.000 | 3 | 2005 | 2019 | ||||
|
6 | 0.807 | 0.280 | 6 | 32041093 | missense variant | C/G;T | snv | 5.5E-04 | 0.020 | 1.000 | 2 | 1997 | 2015 | ||||
|
3 | 0.882 | 0.200 | 6 | 32038538 | missense variant | A/C;T | snv | 8.6E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.763 | 0.320 | 7 | 75985688 | missense variant | C/T | snv | 0.31 | 0.27 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.200 | 12 | 104315829 | frameshift variant | T/- | del | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 6 | 32039810 | missense variant | T/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.240 | 6 | 32040179 | missense variant | G/A | snv | 1.1E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
36 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.200 | 6 | 32041097 | missense variant | G/A;C | snv | 8.8E-06; 3.3E-04 | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||
|
3 | 0.882 | 0.200 | 6 | 32039162 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.200 | 6 | 32041097 | frameshift variant | GG/C | delins | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||
|
3 | 0.882 | 0.200 | 6 | 32039165 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.200 | 6 | 32039118 | missense variant | C/A;T | snv | 7.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.240 | 6 | 32041006 | missense variant | C/T | snv | 4.6E-03 | 5.2E-03 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
1 | 1.000 | 6 | 32039816 | missense variant | T/A;C | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.200 | 6 | 32040919 | missense variant | G/A | snv | 1.5E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 6 | 32038498 | missense variant | C/T | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 10 | 122598858 | frameshift variant | G/- | delins | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||
|
6 | 0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |