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 | 0.040 | 9 | 122370243 | upstream gene variant | A/G | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 29235839 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.080 | 9 | 22019130 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.120 | 1 | 171636131 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 13 | 95210754 | missense variant | C/A | snv | 4.9E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.882 | 0.040 | 17 | 10130362 | intron variant | C/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.200 | 14 | 60509819 | missense variant | C/A;G | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 17 | 74863112 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 1 | 78491756 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
|
10 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.807 | 0.200 | 22 | 42126611 | missense variant | C/G | snv | 0.58 | 0.020 | 0.500 | 2 | 2009 | 2010 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.160 | 7 | 80677034 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.807 | 0.040 | 1 | 171652139 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.040 | 11 | 83909897 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.040 | 10 | 68241124 | intron variant | C/T | snv | 0.39 | 0.020 | 0.500 | 2 | 2012 | 2016 | ||||
|
8 | 0.790 | 0.360 | 7 | 150990599 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 78489470 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 11 | 47446993 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 7 | 80668857 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
22 | 0.683 | 0.480 | 9 | 22003224 | 3 prime UTR variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.040 | 1 | 171636686 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.882 | 0.200 | 7 | 151010400 | intron variant | C/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 |