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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.040 | 1 | 111500165 | missense variant | T/G | snv | 9.4E-02 | 9.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.020 | 1.000 | 2 | 2005 | 2014 | |||
|
4 | 0.851 | 0.040 | 8 | 37966277 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.040 | 0.750 | 4 | 2007 | 2016 | |||
|
15 | 0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 1.000 | 11 | 1999 | 2016 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.020 | 1.000 | 2 | 1999 | 2013 | |||
|
4 | 0.882 | 0.040 | 1 | 230710211 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
4 | 0.851 | 0.080 | 3 | 148741190 | missense variant | T/C;G | snv | 4.0E-06; 8.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
4 | 0.851 | 0.080 | 3 | 148717966 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.010 | < 0.001 | 1 | 1994 | 1994 | |||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.040 | 3 | 148741588 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
9 | 0.807 | 0.120 | 5 | 35037010 | missense variant | C/T | snv | 0.21 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.120 | 3 | 186620038 | intron variant | T/C | snv | 0.46 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.060 | 1.000 | 6 | 2010 | 2018 | |||
|
3 | 0.882 | 0.040 | 12 | 111790509 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.280 | 17 | 4632019 | missense variant | G/A | snv | 2.7E-02 | 1.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.807 | 0.120 | 11 | 116836082 | missense variant | C/A | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
5 | 0.827 | 0.040 | 11 | 116836193 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 1996 | 1996 |