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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 2 | 31580683 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 10 | 102832492 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 19 | 17821391 | missense variant | A/C | snv | 7.3E-04 | 5.5E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.120 | 13 | 31777398 | missense variant | A/C;G | snv | 4.6E-03; 4.0E-06 | 0.740 | 0.800 | 5 | 2002 | 2011 | ||||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2012 | |||
|
11 | 0.776 | 0.280 | 16 | 346264 | synonymous variant | A/G | snv | 0.61 | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 12 | 49185140 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
33 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.320 | 18 | 55228877 | missense variant | C/A | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
6 | 0.827 | 0.320 | 4 | 122619586 | intron variant | C/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.360 | 11 | 61774051 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 9 | 124500523 | missense variant | C/A;G | snv | 4.3E-06; 0.10 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
5 | 0.827 | 0.160 | 11 | 32396397 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06; 9.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
16 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 27174194 | missense variant | C/A;T | snv | 4.3E-06; 4.3E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.763 | 0.320 | 12 | 122172836 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.240 | 19 | 17816591 | 3 prime UTR variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 19 | 17816945 | missense variant | C/T | snv | 6.9E-04 | 2.7E-04 | 0.710 | 1.000 | 1 | 2018 | 2018 |