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 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.900 | 0.867 | 15 | 2008 | 2019 | ||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.880 | 1.000 | 12 | 2009 | 2019 | |||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.880 | 1.000 | 9 | 2008 | 2019 | ||||
|
10 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 0.080 | 0.875 | 8 | 2010 | 2019 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.770 | 1.000 | 8 | 2011 | 2019 | |||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.070 | 0.714 | 7 | 2009 | 2017 | ||||
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.830 | 1.000 | 6 | 2009 | 2017 | |||||
|
9 | 0.776 | 0.400 | 3 | 48466996 | missense variant | G/A;C | snv | 2.1E-04; 2.7E-04 | 0.730 | 1.000 | 6 | 2007 | 2013 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 0.800 | 5 | 2009 | 2016 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.810 | 1.000 | 5 | 2008 | 2017 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.050 | 1.000 | 5 | 2010 | 2018 | ||||
|
7 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 0.730 | 1.000 | 4 | 2011 | 2016 | ||||
|
10 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2007 | 2019 | |||||
|
7 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2002 | 2010 | ||||
|
5 | 0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 | 0.720 | 1.000 | 4 | 2012 | 2019 | ||||
|
4 | 0.882 | 0.200 | 7 | 74779296 | missense variant | G/A | snv | 1.1E-03 | 0.040 | 1.000 | 4 | 2017 | 2020 | ||||
|
5 | 0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2019 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.040 | 0.750 | 4 | 2004 | 2016 | ||||
|
5 | 0.851 | 0.320 | 1 | 161624624 | missense variant | G/A;C | snv | 4.0E-06; 2.8E-05 | 0.040 | 1.000 | 4 | 2002 | 2010 | ||||
|
5 | 0.851 | 0.280 | 11 | 128441164 | intergenic variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2009 | 2015 | |||||
|
5 | 0.882 | 0.200 | 2 | 30222160 | intergenic variant | T/C;G | snv | 0.720 | 1.000 | 4 | 2013 | 2017 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.040 | 0.750 | 4 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 129028456 | intron variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2008 | 2014 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
7 | 0.851 | 0.240 | 16 | 3657746 | missense variant | G/A;T | snv | 0.36; 4.0E-06 | 0.030 | 0.667 | 3 | 2004 | 2013 |