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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 17 | 45996612 | missense variant | A/C | snv | 4.0E-06 | 0.820 | 1.000 | 6 | 1999 | 2008 | ||||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2001 | 2017 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.700 | 1.000 | 6 | 1995 | 2017 | |||||
|
10 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1998 | 2017 | |||||
|
6 | 0.827 | 0.120 | 14 | 73173631 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1997 | 2017 | |||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 17 | 46018627 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.120 | 5 | 102419925 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2001 | 2018 | |||||
|
5 | 0.851 | 0.120 | 2 | 79121649 | missense variant | A/G;T | snv | 8.0E-06; 5.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 46018645 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.120 | 17 | 46018726 | missense variant | A/T | snv | 0.810 | 1.000 | 1 | 2001 | 2001 | |||||
|
10 | 0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv | 0.700 | 1.000 | 5 | 1995 | 2015 | |||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
13 | 0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 2006 | 2017 | |||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.040 | 1.000 | 4 | 2013 | 2016 | ||||
|
9 | 0.776 | 0.120 | X | 56565363 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.807 | 0.120 | X | 56565389 | missense variant | C/A;T | snv | 6.6E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.200 | 17 | 45996638 | missense variant | C/G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2003 | 2007 | ||||
|
2 | 0.925 | 0.120 | 2 | 79121657 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |