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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.200 | 20 | 10652533 | missense variant | C/T | snv | 0.830 | 1.000 | 4 | 2001 | 2010 | |||||
|
3 | 1.000 | 0.080 | 10 | 33186354 | missense variant | C/T | snv | 0.12 | 9.4E-02 | 0.820 | 1.000 | 3 | 2013 | 2018 | |||
|
5 | 0.827 | 0.080 | 8 | 11758366 | missense variant | C/A;G | snv | 5.1E-04; 6.8E-05 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
17 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.810 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 5 | 173232898 | missense variant | G/A | snv | 4.4E-06 | 0.800 | 1.000 | 3 | 1999 | 2003 | ||||
|
2 | 0.925 | 0.120 | 20 | 10643807 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 2 | 2001 | 2010 | |||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 18869231 | missense variant | C/A;T | snv | 2.1E-04 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 10 | 8912261 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 52797550 | intergenic variant | T/C | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 13 | 92336070 | intron variant | C/A | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 8 | 105801714 | missense variant | G/A;T | snv | 3.4E-03; 4.0E-06 | 0.800 | 0 | |||||||
|
4 | 0.882 | 0.080 | 18 | 22171695 | missense variant | G/A | snv | 8.4E-04 | 1.5E-04 | 0.720 | 1.000 | 3 | 2010 | 2014 | |||
|
5 | 0.925 | 0.120 | 12 | 112468611 | intron variant | A/G | snv | 0.70 | 0.710 | 1.000 | 2 | 2012 | 2013 | ||||
|
7 | 0.807 | 0.080 | 8 | 11708799 | missense variant | C/T | snv | 7.3E-05 | 4.2E-05 | 0.710 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 5 | 173232888 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2003 | ||||
|
6 | 0.807 | 0.160 | 5 | 173235023 | missense variant | C/G | snv | 1.1E-03 | 7.1E-04 | 0.700 | 1.000 | 3 | 1999 | 2003 | |||
|
1 | 1.000 | 0.080 | 7 | 100819874 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
4 | 0.851 | 0.080 | 8 | 105419192 | missense variant | A/C;G | snv | 4.0E-06; 2.7E-03 | 0.700 | 1.000 | 2 | 2003 | 2011 | ||||
|
1 | 1.000 | 0.080 | 18 | 22171736 | missense variant | C/G | snv | 6.6E-05 | 6.7E-04 | 0.700 | 1.000 | 2 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 9 | 136523014 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
7 | 0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 63042945 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |