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 | 0.100 | 0.980 | 153 | 1997 | 2020 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.100 | 0.957 | 70 | 1998 | 2019 | |||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.100 | 1.000 | 46 | 2005 | 2019 | ||||
|
9 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 0.100 | 0.931 | 29 | 2008 | 2019 | ||||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.100 | 1.000 | 28 | 2005 | 2019 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.821 | 28 | 2002 | 2019 | ||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.100 | 0.962 | 26 | 2009 | 2020 | ||||
|
9 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 0.100 | 0.957 | 23 | 2012 | 2019 | |||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.100 | 0.955 | 22 | 2004 | 2020 | ||||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.900 | 1.000 | 16 | 2009 | 2020 | |||||
|
7 | 0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv | 0.100 | 1.000 | 13 | 2003 | 2017 | |||||
|
4 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 0.860 | 1.000 | 12 | 2009 | 2018 | |||||
|
6 | 0.827 | 0.120 | 4 | 41260751 | missense variant | C/A;G;T | snv | 4.0E-05; 4.0E-06; 2.0E-05 | 0.100 | 1.000 | 11 | 1999 | 2017 | ||||
|
3 | 0.925 | 0.080 | 4 | 89720189 | intron variant | T/A;C | snv | 0.850 | 1.000 | 11 | 2010 | 2016 | |||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.100 | 0.700 | 10 | 2004 | 2019 | ||||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.090 | 1.000 | 9 | 2013 | 2020 | |||||
|
1 | 1.000 | 0.040 | 10 | 86958785 | missense variant | G/C | snv | 0.080 | 1.000 | 8 | 1999 | 2018 | |||||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.080 | 1.000 | 8 | 2014 | 2019 | ||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.080 | 0.875 | 8 | 2013 | 2016 | ||||
|
9 | 0.827 | 0.080 | 4 | 89828154 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 2013 | 2020 | |||||
|
1 | 1.000 | 0.040 | 4 | 15735725 | intron variant | G/A;T | snv | 0.850 | 1.000 | 7 | 2011 | 2019 | |||||
|
7 | 0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv | 0.070 | 0.857 | 7 | 2005 | 2015 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.060 | 0.500 | 6 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.040 | 14 | 54882151 | intron variant | C/A;G;T | snv | 0.730 | 1.000 | 6 | 2014 | 2018 | |||||
|
4 | 0.851 | 0.080 | 10 | 102231624 | missense variant | G/A;C;T | snv | 0.62; 8.3E-06 | 0.060 | 0.833 | 6 | 2011 | 2017 |