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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 0.972 | 36 | 1992 | 2019 | ||||
|
3 | 0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 | 0.700 | 1.000 | 20 | 1991 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 112839469 | missense variant | C/T | snv | 8.8E-05 | 1.0E-04 | 0.700 | 1.000 | 20 | 1991 | 2017 | |||
|
2 | 1.000 | 0.120 | 5 | 112839531 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1991 | 2017 | |||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.710 | 1.000 | 16 | 1992 | 2009 | ||||
|
7 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 0.710 | 1.000 | 12 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.120 | 5 | 112767263 | missense variant | C/A;T | snv | 4.0E-06; 3.9E-04 | 0.700 | 1.000 | 11 | 1991 | 2016 | ||||
|
7 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 0.700 | 1.000 | 10 | 1992 | 2016 | |||||
|
14 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 0.070 | 1.000 | 7 | 2001 | 2019 | ||||
|
10 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1992 | 2011 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.060 | 1.000 | 6 | 1998 | 2015 | |||
|
2 | 0.925 | 0.120 | 5 | 112834949 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 6 | 1997 | 2013 | |||||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 1999 | 2019 | |||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.040 | 1.000 | 4 | 2007 | 2015 | |||
|
2 | 1.000 | 0.120 | 5 | 112827106 | splice acceptor variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2004 | 2017 | |||||
|
9 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 0.030 | 1.000 | 3 | 2004 | 2007 | |||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.030 | 1.000 | 3 | 2003 | 2008 | |||
|
5 | 0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 | 0.030 | 1.000 | 3 | 2003 | 2008 | ||||
|
3 | 0.925 | 0.120 | 5 | 112838880 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1999 | 2009 | |||||
|
1 | 1.000 | 0.120 | 5 | 112792444 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
10 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 0.730 | 1.000 | 3 | 2000 | 2016 | |||||
|
2 | 0.925 | 0.120 | 5 | 112775693 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1998 | 2006 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
3 | 0.925 | 0.200 | 18 | 31595152 | missense variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2007 | 2008 | |||||
|
15 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2005 | 2014 |