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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.080 | 12 | 121001145 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06; 8.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.080 | X | 78327951 | upstream gene variant | C/T | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
10 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.200 | 20 | 46011586 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.080 | 12 | 109814742 | missense variant | G/A;C | snv | 3.7E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
11 | 0.827 | 0.200 | 17 | 3577153 | missense variant | T/C | snv | 0.37 | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.160 | 1 | 206867232 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.742 | 0.240 | 11 | 67585239 | missense variant | T/C;G | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
12 | 0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 19 | 3586545 | synonymous variant | G/A | snv | 4.0E-06; 0.14 | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.020 | 1.000 | 2 | 2009 | 2013 | |||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1 | 206770767 | 5 prime UTR variant | T/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 3 | 190588085 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 2 | 102336984 | intron variant | G/A | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |