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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 6 | 33190412 | intron variant | A/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 6 | 31617223 | upstream gene variant | T/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.280 | 6 | 151949537 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.200 | 6 | 31675622 | downstream gene variant | T/A;C | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.200 | 19 | 45419065 | intron variant | G/A;T | snv | 1.9E-04; 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 161626395 | synonymous variant | C/T | snv | 2.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 12 | 47900348 | intron variant | G/A | snv | 0.72 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.240 | 11 | 128622844 | intron variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.280 | 11 | 118871133 | regulatory region variant | C/T | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 17 | 7674889 | missense variant | A/C;G | snv | 3.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 20 | 149223 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 3 | 188582114 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.120 | 17 | 7673308 | stop lost | T/G | snv | 2.3E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 6 | 32684540 | regulatory region variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 18 | 76995493 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.280 | 6 | 33093172 | intron variant | C/T | snv | 0.33 | 0.720 | 1.000 | 2 | 2012 | 2014 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2015 | 2016 |