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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.895 | 19 | 2001 | 2015 | |||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.100 | 1.000 | 12 | 2011 | 2019 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.100 | 1.000 | 11 | 2011 | 2019 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.100 | 1.000 | 11 | 2013 | 2019 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.100 | 1.000 | 10 | 2010 | 2020 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.900 | 10 | 2002 | 2016 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.090 | 1.000 | 9 | 2011 | 2019 | |||||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.050 | 1.000 | 5 | 2009 | 2014 | |||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.740 | 1.000 | 5 | 2014 | 2016 | ||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2011 | 2018 | |||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.030 | 1.000 | 3 | 2015 | 2017 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
16 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
14 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
11 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 0.020 | 0.500 | 2 | 2006 | 2010 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2003 | 2010 | |||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
22 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
11 | 0.790 | 0.160 | 1 | 15524988 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.020 | 1.000 | 2 | 2008 | 2015 | |||
|
5 | 0.882 | 0.160 | 1 | 204190659 | missense variant | G/A;C | snv | 5.2E-06; 0.29 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
8 | 0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 1 | 161194005 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |