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 | 0.870 | 23 | 2004 | 2018 | |||
|
22 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 0.100 | 1.000 | 16 | 2011 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.818 | 11 | 2005 | 2014 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.050 | 0.800 | 5 | 2009 | 2014 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
5 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
13 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 0.030 | 1.000 | 3 | 2011 | 2019 | |||
|
10 | 0.763 | 0.240 | 1 | 204519150 | intron variant | G/C | snv | 0.57 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||
|
4 | 0.882 | 0.080 | 1 | 155162859 | intergenic variant | T/C | snv | 0.56 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 46177421 | intron variant | A/G | snv | 0.22 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
19 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.200 | 1 | 207337251 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 1 | 172665840 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 |