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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 1 | 20501166 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.080 | 17 | 39723921 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 16 | 46822677 | intron variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 19 | 50401817 | missense variant | G/A | snv | 0.11 | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
17 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 5 | 80854162 | missense variant | A/G;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 1 | 226408338 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
23 | 0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 19 | 17267350 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | 19 | 10146569 | intron variant | G/A | snv | 0.36 | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 13 | 28036046 | splice region variant | A/G | snv | 0.71 | 0.61 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |