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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.050 | 1.000 | 5 | 2012 | 2019 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.050 | 1.000 | 5 | 2010 | 2018 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
8 | 0.827 | 0.240 | 17 | 3589906 | missense variant | C/A;G;T | snv | 0.72; 4.5E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
9 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
9 | 0.827 | 0.200 | 22 | 19962740 | missense variant | G/A;T | snv | 4.8E-05; 1.4E-02 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
5 | 0.851 | 0.160 | 12 | 121167552 | missense variant | G/A;C | snv | 0.25; 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 12 | 114398675 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 21 | 38403690 | synonymous variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 8 | 72037366 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 1.000 | 0.120 | 22 | 42128944 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 16 | 28975269 | missense variant | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 17 | 76503318 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 17 | 49510504 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
7 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 11 | 118274971 | regulatory region variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
21 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |