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 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.720 | 1.000 | 3 | 2015 | 2019 | |||
|
18 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 3 | 2012 | 2016 | |||||
|
17 | 0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||
|
6 | 0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2015 | 2016 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
17 | 0.708 | 0.280 | 6 | 29785031 | intergenic variant | A/G | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
4 | 0.851 | 0.080 | 7 | 55174777 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
17 | 0.708 | 0.280 | 13 | 32265853 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 0.925 | 0.120 | 9 | 125714185 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
22 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 14 | 33545815 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 151625198 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |