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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 18 | 44951912 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 4 | 54695598 | missense variant | G/A | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
13 | 0.732 | 0.240 | 4 | 54727298 | missense variant | A/C;G;T | snv | 7.7E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
7 | 0.790 | 0.160 | 21 | 45512196 | missense variant | A/G | snv | 2.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 9 | 130862953 | missense variant | A/G | snv | 2.6E-03 | 2.5E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 4 | 99597206 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
26 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 12 | 98659331 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.120 | 3 | 128481887 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 9 | 130878519 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.240 | 18 | 63318646 | synonymous variant | T/C | snv | 0.37 | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 9 | 130872901 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 1.000 | 0.080 | 9 | 130872895 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 9 | 130872902 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 9 | 130873028 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 12 | 68839467 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 5 | 40765164 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 27214252 | intergenic variant | A/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 136677118 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 4 | 54278380 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 6 | 31270339 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |