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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.760 | 1.000 | 6 | 1998 | 2010 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.030 | 1.000 | 3 | 2000 | 2004 | |||||
|
1 | 1.000 | 0.080 | 4 | 89822344 | missense variant | C/T | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2004 | 2009 | ||||
|
2 | 0.925 | 0.080 | 21 | 25975995 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 1 | 155419060 | intron variant | A/T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 10 | 58388932 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 1 | 155162560 | intergenic variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 4 | 89835399 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.807 | 0.160 | 1 | 155235726 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 4 | 89725318 | 3 prime UTR variant | -/TAA;TAAAA | ins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 4 | 89835568 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 14 | 73173623 | synonymous variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.860 | 1.000 | 6 | 2004 | 2019 | ||||
|
4 | 0.851 | 0.080 | 6 | 162262651 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.776 | 0.160 | 1 | 155235196 | missense variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
8 | 0.776 | 0.160 | 1 | 155237453 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
8 | 0.776 | 0.160 | 1 | 155235772 | missense variant | C/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 |