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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.120 | 17 | 80104542 | intron variant | T/G | snv | 3.4E-03 | 3.8E-03 | 0.700 | 1.000 | 18 | 1988 | 2015 | |||
|
4 | 0.925 | 0.160 | 15 | 27985101 | missense variant | C/T | snv | 3.0E-03 | 3.4E-03 | 0.700 | 1.000 | 12 | 1993 | 2016 | |||
|
3 | 0.882 | 0.120 | 15 | 45101228 | frameshift variant | ACGA/- | delins | 2.9E-03 | 2.6E-03 | 0.700 | 1.000 | 15 | 2002 | 2017 | |||
|
4 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 0.700 | 1.000 | 12 | 1967 | 2017 | ||||
|
5 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 0.700 | 1.000 | 6 | 2007 | 2017 | |||
|
3 | 1.000 | 1 | 152307855 | stop gained | G/C | snv | 4.7E-04 | 9.8E-05 | 0.700 | 1.000 | 6 | 1966 | 2013 | ||||
|
4 | 0.882 | 0.120 | 17 | 80213815 | missense variant | C/A;T | snv | 4.4E-06; 3.3E-04 | 0.700 | 1.000 | 8 | 2003 | 2018 | ||||
|
3 | 0.925 | 2 | 232486499 | frameshift variant | ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- | delins | 3.3E-04 | 1.1E-04 | 0.700 | 1.000 | 5 | 2013 | 2015 | ||||
|
5 | 0.882 | 0.120 | 9 | 128536414 | missense variant | G/A | snv | 2.7E-04 | 9.8E-05 | 0.700 | 1.000 | 7 | 1985 | 2017 | |||
|
3 | 0.882 | 7 | 2543754 | frameshift variant | -/T | delins | 2.5E-04; 2.0E-05 | 2.3E-04 | 0.700 | 1.000 | 9 | 2006 | 2017 | ||||
|
7 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 0.700 | 1.000 | 36 | 1989 | 2018 | ||||
|
9 | 0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 | 0.700 | 1.000 | 4 | 2011 | 2014 | |||
|
4 | 0.882 | 0.120 | X | 154532990 | missense variant | C/A;T | snv | 5.5E-06; 1.9E-04 | 6.6E-05 | 0.700 | 1.000 | 5 | 1981 | 2008 | |||
|
5 | 0.851 | 0.320 | 11 | 61393965 | missense variant | G/A;T | snv | 8.0E-06; 1.7E-04 | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||
|
5 | 0.882 | 0.160 | 1 | 45508848 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 0.700 | 1.000 | 7 | 2006 | 2015 | |||
|
3 | 0.925 | 22 | 46353829 | missense variant | G/A | snv | 1.7E-04 | 1.1E-04 | 0.700 | 1.000 | 7 | 2009 | 2015 | ||||
|
2 | 0.925 | 0.080 | 16 | 8811173 | missense variant | G/A | snv | 1.6E-04 | 1.3E-04 | 0.700 | 1.000 | 12 | 1997 | 2017 | |||
|
8 | 0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 | 0.700 | 0 | ||||||
|
3 | 1.000 | 16 | 578912 | inframe deletion | ACT/- | delins | 1.5E-04 | 1.1E-04 | 0.700 | 1.000 | 9 | 1998 | 2015 | ||||
|
11 | 0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 | 0.700 | 1.000 | 8 | 2002 | 2017 | |||
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.700 | 1.000 | 10 | 1999 | 2016 | ||||
|
5 | 0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 | 0.700 | 1.000 | 7 | 1992 | 2016 | |||
|
2 | 0.925 | 2 | 65020916 | missense variant | C/T | snv | 1.2E-04 | 1.4E-05 | 0.700 | 1.000 | 6 | 1992 | 2016 | ||||
|
2 | 1.000 | 20 | 32436955 | stop gained | C/G;T | snv | 1.2E-04 | 4.9E-05 | 0.700 | 1.000 | 7 | 2004 | 2015 | ||||
|
5 | 0.851 | 0.240 | 8 | 144513412 | stop gained | G/A | snv | 1.2E-04 | 8.4E-05 | 0.700 | 1.000 | 5 | 2006 | 2015 |