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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.100 | 0.875 | 16 | 1999 | 2019 | ||||
|
2 | 0.925 | 0.160 | 14 | 80955834 | missense variant | C/A;G | snv | 6.8E-02; 1.2E-05 | 0.050 | 0.600 | 5 | 1999 | 2003 | ||||
|
13 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 0.040 | 0.750 | 4 | 1999 | 2003 | |||
|
2 | 0.925 | 0.120 | 2 | 178783017 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
8 | 0.807 | 0.280 | 6 | 32857313 | missense variant | G/A;T | snv | 0.24; 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.120 | 2 | 113131075 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.120 | 14 | 80955786 | missense variant | G/C | snv | 5.2E-03 | 5.0E-03 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.020 | 0.500 | 2 | 2003 | 2005 | ||||
|
3 | 0.882 | 0.160 | 2 | 170829475 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
22 | 0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 | 0.030 | 1.000 | 3 | 2004 | 2018 | |||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.900 | 0.857 | 14 | 2005 | 2019 | |||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2018 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2018 | |||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.160 | 14 | 88472308 | missense variant | A/G | snv | 0.33; 4.0E-06 | 0.38 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 4 | 108165124 | missense variant | C/A;T | snv | 8.2E-03 | 6.1E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 4 | 108167727 | missense variant | T/C | snv | 3.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.050 | 0.800 | 5 | 2007 | 2020 | |||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.020 | < 0.001 | 2 | 2007 | 2013 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | < 0.001 | 2 | 2007 | 2013 | |||
|
16 | 0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||
|
2 | 0.925 | 0.120 | 14 | 80996551 | intron variant | T/C | snv | 0.20 | 0.020 | 0.500 | 2 | 2008 | 2016 |