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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
14 | 0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 105234028 | missense variant | C/G;T | snv | 6.3E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.080 | 11 | 108259059 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 108270407 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.851 | 0.160 | 12 | 112489093 | missense variant | A/C | 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 | ||||
|
2 | 1.000 | 0.040 | 9 | 113424228 | frameshift variant | -/G | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 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 | |||||
|
6 | 0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv | 0.820 | 1.000 | 2 | 2011 | 2012 | |||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.080 | X | 130013883 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 6 | 162262719 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
7 | 0.807 | 0.080 | 5 | 177512369 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 |