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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2012 | ||||
|
2 | 0.925 | 0.160 | 18 | 673086 | 3 prime UTR variant | A/G;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 18 | 77002561 | intron variant | G/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 18 | 74518552 | missense variant | C/G | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 0.500 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 49014714 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.120 | 15 | 74036235 | 3 prime UTR variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.030 | 1.000 | 3 | 2014 | 2017 | ||||
|
3 | 0.882 | 0.120 | 14 | 23119433 | 5 prime UTR variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
12 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
2 | 0.925 | 0.120 | 13 | 48045720 | missense variant | G/A | snv | 2.6E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.120 | 13 | 48037798 | missense variant | G/A | snv | 9.1E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.120 | 13 | 95206781 | missense variant | C/A;G;T | snv | 9.7E-02 | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.240 | 13 | 102861511 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 0.700 | 0 |