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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.871 | 31 | 2005 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.600 | 10 | 2003 | 2017 | ||||
|
10 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 0.050 | 1.000 | 5 | 2010 | 2018 | |||||
|
9 | 0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 | 0.030 | 1.000 | 3 | 2008 | 2013 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.030 | 1.000 | 3 | 2007 | 2012 | ||||
|
23 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
11 | 0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2013 | 2017 | |||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.030 | 0.667 | 3 | 2005 | 2013 | ||||
|
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 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2009 | 2010 | |||||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2002 | 2013 | |||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
20 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 0.020 | 1.000 | 2 | 2001 | 2006 | ||||
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 0.720 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.882 | 0.120 | 4 | 1961074 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2018 | |||||
|
10 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
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 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | |||||
|
6 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.200 | 14 | 64388323 | 5 prime UTR variant | T/C;G | snv | 0.45; 8.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |