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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.720 | 1.000 | 5 | 2013 | 2017 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
5 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 12 | 6390939 | 3 prime UTR variant | T/A;G | snv | 1.6E-04; 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 4 | 69293669 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 12 | 10392998 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 12 | 6382781 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
15 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 6 | 33007157 | synonymous variant | G/A;C | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.200 | 2 | 46349033 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 90482078 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
22 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 8 | 138653967 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |