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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2000 | ||||
|
5 | 0.882 | 0.080 | 17 | 3524224 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2008 | 2017 | |||||
|
5 | 0.882 | 0.200 | 13 | 20189359 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
4 | 0.882 | 0.200 | 13 | 20189406 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
9 | 0.776 | 0.280 | 13 | 20189451 | stop gained | C/G;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
16 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 6 | 31117017 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 17 | 3518587 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 40819557 | stop gained | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 0.925 | 0.080 | 12 | 52492676 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.882 | 0.200 | 13 | 20189391 | frameshift variant | ACACGTTCTTGCAGCC/- | delins | 1.2E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
7 | 0.807 | 0.240 | 1 | 156136359 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.240 | 13 | 20189540 | frameshift variant | -/T | delins | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 2 | 223777776 | missense variant | G/A | snv | 7.6E-03 | 7.2E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 34761865 | missense variant | A/C | snv | 3.9E-02 | 7.5E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
10 | 0.790 | 0.080 | 4 | 65354979 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.790 | 0.080 | 4 | 145811502 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.790 | 0.080 | 4 | 145819473 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.040 | 6 | 31291060 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 |