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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.200 | 18 | 31592975 | missense variant | T/C;G | snv | 0.020 | 0.500 | 2 | 2007 | 2014 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.050 | 0.600 | 5 | 2013 | 2017 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.050 | 0.600 | 5 | 2013 | 2017 | ||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.100 | 0.931 | 29 | 1998 | 2018 | ||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 0.980 | 49 | 1986 | 2019 | ||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.100 | 1.000 | 12 | 2001 | 2019 | |||
|
8 | 0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1991 | 2018 | ||||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.040 | 1.000 | 4 | 2000 | 2005 | ||||
|
6 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2003 | 2011 | |||||
|
3 | 0.882 | 0.120 | 18 | 31592992 | missense variant | G/C | snv | 0.030 | 1.000 | 3 | 1999 | 2018 | |||||
|
8 | 0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 1999 | 2015 | |||||
|
7 | 0.807 | 0.200 | 18 | 31592939 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2003 | 2019 | |||||
|
8 | 0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 | 0.030 | 1.000 | 3 | 2005 | 2009 | |||
|
9 | 0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv | 0.030 | 1.000 | 3 | 1994 | 2018 | |||||
|
13 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2010 | ||||
|
6 | 0.851 | 0.200 | 12 | 69350215 | missense variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||
|
9 | 0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 | 0.030 | 1.000 | 3 | 2002 | 2007 | |||
|
4 | 0.851 | 0.200 | 9 | 121321384 | synonymous variant | G/T | snv | 0.030 | 1.000 | 3 | 2002 | 2007 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
6 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2007 | 2017 | |||||
|
10 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
11 | 0.827 | 0.160 | 18 | 31595184 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2003 | 2015 | |||||
|
9 | 0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 | 0.020 | 1.000 | 2 | 2005 | 2006 | |||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
16 | 0.716 | 0.400 | 16 | 3243405 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 | 0.020 | 1.000 | 2 | 2001 | 2017 |