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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.800 | 0.943 | 105 | 2001 | 2020 | |||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
18 | 0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.732 | 0.240 | 4 | 54727298 | missense variant | A/C;G;T | snv | 7.7E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
10 | 0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
15 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
10 | 0.763 | 0.240 | 10 | 99782821 | 5 prime UTR variant | C/T | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
12 | 0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.400 | 1 | 35897874 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.160 | 21 | 45512196 | missense variant | A/G | snv | 2.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
8 | 0.807 | 0.160 | 4 | 99594840 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 0.917 | 12 | 2006 | 2018 | ||||
|
9 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.807 | 0.240 | 8 | 30183156 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.360 | 6 | 160130172 | missense variant | G/A;C;T | snv | 4.0E-06; 0.83; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 0.730 | 1.000 | 18 | 2001 | 2014 | |||||
|
6 | 0.827 | 0.080 | 17 | 42301316 | missense variant | C/T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2012 | 2018 |