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 | 0.925 | 0.080 | 13 | 105370372 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 2 | 233767063 | synonymous variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 9 | 122381694 | missense variant | C/A | snv | 1.8E-02 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.776 | 0.280 | 2 | 48688065 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2000 | 2011 | ||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 8 | 17578682 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.120 | 11 | 67490085 | missense variant | C/G;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
7 | 0.851 | 0.160 | 12 | 47838310 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.020 | 1.000 | 2 | 2010 | 2012 | |||
|
4 | 0.925 | 11 | 67483198 | stop gained | C/T | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 8 | 127395871 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
4 | 0.882 | 0.120 | 5 | 34004602 | missense variant | C/T | snv | 0.42 | 0.38 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 3 | 177053096 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 14158408 | missense variant | C/T | snv | 4.2E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 |