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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
11 | 0.763 | 0.200 | 11 | 32392020 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 19 | 35850987 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 9 | 123373609 | frameshift variant | GGCCCGGCGCGGCCCC/-;GGCCCGGCGCGGCCCCGGCCCGGCGCGGCCCC | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.280 | 11 | 32391967 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 1992 | 1992 | |||||
|
6 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.080 | 1 | 179557051 | missense variant | C/A | snv | 8.0E-06; 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
6 | 0.851 | 0.080 | 1 | 179564715 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
5 | 0.851 | 0.080 | 1 | 179561328 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
10 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.080 | 1 | 179575654 | stop gained | G/A | snv | 4.3E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.080 | 11 | 101504595 | missense variant | T/C | snv | 2.0E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.120 | 1 | 161170696 | missense variant | G/A;T | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.080 | 1 | 179575806 | missense variant | G/A | snv | 2.8E-03 | 4.2E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.080 | 1 | 155187356 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.120 | 1 | 179552608 | missense variant | C/T | snv | 1.1E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.827 | 0.080 | 10 | 100806499 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.080 | 1.000 | 8 | 2009 | 2014 | |||
|
4 | 0.851 | 0.120 | 6 | 32641349 | missense variant | T/A;C | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 6 | 32641328 | missense variant | G/A | snv | 0.49 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.080 | 6 | 32584354 | missense variant | C/A;G;T | snv | 8.9E-03; 0.23; 1.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 6 | 32584360 | missense variant | G/A;C;T | snv | 2.6E-02; 5.7E-04; 0.18; 1.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 123370935 | missense variant | C/T | snv | 1.2E-05 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 101583445 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |