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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
12 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
16 | 0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.790 | 0.280 | 6 | 137881704 | 3 prime UTR variant | C/T | snv | 7.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.120 | 6 | 31355479 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.080 | 17 | 39708379 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
29 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2003 | 2015 | ||||
|
8 | 0.882 | 0.120 | 11 | 65649963 | synonymous variant | G/A | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.925 | 0.040 | 17 | 7674956 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.925 | 0.080 | 4 | 148827842 | intron variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
7 | 0.851 | 0.160 | 20 | 56369012 | downstream gene variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 1.000 | 0.120 | 6 | 106142488 | intron variant | A/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2005 | 2005 |