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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.080 | 4 | 7460097 | mature miRNA variant | -/C;CACCC;CCC | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 17 | 4632090 | intron variant | A/C;G | snv | 4.0E-06; 0.53 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.120 | 12 | 6601978 | missense variant | A/C;G | snv | 2.0E-05; 1.2E-04; 5.2E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.080 | 6 | 158014540 | intron variant | A/C;G | snv | 0.56 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 2015 | 2015 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2015 | |||
|
8 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 7 | 122993419 | downstream gene variant | A/G | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 14 | 68536271 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.925 | 0.200 | 7 | 55157753 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 11 | 108304736 | missense variant | A/T | snv | 4.9E-03 | 4.4E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.851 | 0.080 | 6 | 52188399 | intron variant | A/T | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.020 | 1.000 | 2 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 1 | 67256533 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 |