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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.020 | 0.500 | 2 | 2003 | 2015 | |||
|
12 | 0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.120 | 19 | 54982828 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
13 | 0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.160 | 12 | 913403 | stop gained | A/C | snv | 3.5E-02 | 2.1E-02 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
9 | 0.763 | 0.200 | 17 | 43094776 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
11 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.882 | 0.160 | 11 | 112153104 | non coding transcript exon variant | C/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 17 | 18347596 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.200 | 17 | 18344707 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
6 | 0.851 | 0.160 | 19 | 45365131 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.200 | 7 | 87595783 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.720 | 1.000 | 3 | 2010 | 2016 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 |