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 | 0.070 | 0.857 | 7 | 1999 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2004 | 2013 | |||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
2 | 0.925 | 0.040 | 1 | 200857641 | 3 prime UTR variant | A/G | snv | 0.14 | 0.810 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 243831739 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.827 | 0.160 | 1 | 160041722 | missense variant | G/A | snv | 4.6E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 1 | 239806797 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.120 | 1 | 154273538 | stop gained | C/G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 1 | 160127704 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 114005041 | intron variant | C/G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 202668176 | intron variant | C/A | snv | 2.7E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 1 | 40080483 | missense variant | C/A;T | snv | 1.2E-05; 8.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
4 | 0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 1 | 160039629 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.080 | 1 | 154571759 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
13 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 160071368 | intron variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 1 | 154275165 | stop gained | C/T | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.080 | 1 | 160139969 | missense variant | C/A;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 34285335 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.280 | 1 | 236895470 | missense variant | C/T | snv | 6.4E-05 | 8.4E-05 | 0.700 | 0 |