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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | X | 121049176 | missense variant | T/G | snv | 2.7E-02 | 3.2E-02 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 6 | 162728023 | 5 prime UTR variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2007 | 2011 | |||||
|
4 | 0.882 | 0.080 | 4 | 89813384 | intron variant | T/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.160 | 1 | 155235196 | missense variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.160 | 1 | 155235772 | missense variant | C/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.120 | 1 | 11022209 | missense variant | A/G | snv | 7.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 1 | 53725022 | intron variant | C/A;T | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.160 | 1 | 155237453 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
8 | 0.790 | 0.080 | 1 | 7970951 | missense variant | G/A;T | snv | 3.9E-04; 2.0E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 132492587 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 5100921 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.752 | 0.200 | 1 | 155235002 | missense variant | C/T | snv | 1.8E-04 | 6.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 1 | 155235256 | missense variant | C/T | snv | 5.2E-04 | 2.3E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 6 | 161785885 | missense variant | C/A;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.080 | 1 | 7984930 | missense variant | A/C | snv | 1.4E-04 | 5.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 12 | 6526401 | intron variant | A/T | snv | 0.75 | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 2 | 232747740 | missense variant | A/G | snv | 2.6E-04 | 3.2E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.040 | 6 | 161785805 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-04 | 0.700 | 1.000 | 4 | 2003 | 2018 | ||||
|
6 | 0.807 | 0.280 | 2 | 74532698 | missense variant | G/A | snv | 4.0E-03 | 2.5E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 |