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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.200 | 9 | 36110066 | synonymous variant | T/A | snv | 0.32 | 0.28 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
6 | 0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
5 | 0.882 | 0.120 | 9 | 36087879 | missense variant | G/A | snv | 9.2E-02 | 8.5E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
17 | 0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
6 | 0.851 | 0.160 | 9 | 35679254 | missense variant | A/G;T | snv | 8.2E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
13 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.200 | 1 | 186675960 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.030 | 0.333 | 3 | 2012 | 2015 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.030 | 0.333 | 3 | 2007 | 2013 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 0.500 | 2 | 2009 | 2019 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.080 | 0.750 | 8 | 2008 | 2015 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 0.750 | 4 | 2013 | 2014 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 0.875 | 8 | 2002 | 2017 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 1.000 | 5 | 2003 | 2015 |