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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 9 | 127813796 | 3 prime UTR variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 7 | 50394939 | intron variant | T/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.500 | 4 | 2003 | 2015 | ||||
|
3 | 0.882 | 0.120 | 2 | 176151875 | missense variant | A/C;T | snv | 5.2E-06; 7.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.120 | 21 | 45514947 | 3 prime UTR variant | A/C | snv | 0.43 | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 4 | 141732548 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.120 | Y | 1196852 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
9 | 0.776 | 0.280 | 10 | 22550699 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 | 0.030 | 0.667 | 3 | 2014 | 2019 | ||||
|
5 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.120 | 11 | 2751648 | intron variant | C/G;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
9 | 0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 | 0.030 | 1.000 | 3 | 2008 | 2013 | ||||
|
6 | 0.807 | 0.200 | 8 | 63026205 | missense variant | G/A | snv | 8.8E-02 | 7.8E-02 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
3 | 0.882 | 0.120 | 11 | 108284370 | frameshift variant | -/T | delins | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 5 | 143400121 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
16 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.903 | 31 | 2002 | 2019 |