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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.854 | 123 | 1997 | 2019 | |||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.100 | 0.727 | 11 | 2004 | 2018 | ||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.090 | 0.889 | 9 | 2004 | 2017 | ||||
|
14 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.050 | 1.000 | 5 | 2008 | 2017 | |||
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
9 | 0.827 | 0.200 | 22 | 19962740 | missense variant | G/A;T | snv | 4.8E-05; 1.4E-02 | 0.040 | 1.000 | 4 | 2005 | 2011 | ||||
|
2 | 0.925 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.020 | 0.500 | 2 | 2016 | 2018 | ||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 22 | 19970240 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 22 | 19963748 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.160 | 22 | 19941361 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 22 | 19963750 | synonymous variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.882 | 0.120 | 22 | 19968169 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |