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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 14 | 32830276 | 3 prime UTR variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.040 | 14 | 32833676 | 3 prime UTR variant | G/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.240 | 8 | 38414788 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.763 | 0.280 | 8 | 38417331 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.120 | 8 | 38417333 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.120 | 8 | 38417879 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.160 | 17 | 44913334 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.040 | 12 | 48970460 | missense variant | T/C | snv | 4.1E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
25 | 0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
18 | 0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 18 | 55279598 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.925 | 0.040 | 18 | 55631366 | missense variant | G/A;C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.827 | 0.080 | 4 | 61996533 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.752 | 0.240 | 11 | 62702499 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 20 | 63659655 | intron variant | A/G | snv | 0.82 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
7 | 0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.851 | 0.160 | 17 | 7673752 | missense variant | G/A;C | snv | 1.2E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
10 | 0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 |