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 | 0.030 | 0.667 | 3 | 2012 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 0.667 | 3 | 2012 | 2015 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2012 | 2016 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2005 | 2013 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2013 | |||||
|
5 | 0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv | 0.820 | 1.000 | 2 | 2011 | 2012 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.280 | 11 | 66063413 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 17 | 7676271 | frameshift variant | -/A | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.040 | 9 | 113424228 | frameshift variant | -/G | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.851 | 0.160 | 19 | 45365131 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.080 | 6 | 38761760 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.160 | 21 | 6486334 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |