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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 1.000 | 3 | 2007 | 2017 | ||||
|
14 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 0.700 | 1.000 | 15 | 2007 | 2016 | ||||
|
14 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 10 | 2001 | 2011 | ||||
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.700 | 1.000 | 34 | 1994 | 2013 | ||||
|
14 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 0.700 | 1.000 | 5 | 2008 | 2016 | |||||
|
12 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||
|
12 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 0.700 | 1.000 | 13 | 1997 | 2017 | ||||
|
11 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2016 | ||||
|
11 | 0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 2000 | 2015 | ||||
|
11 | 0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 9 | 2001 | 2014 | ||||
|
12 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2016 | ||||
|
12 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.700 | 1.000 | 33 | 2001 | 2019 | ||||
|
10 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 19 | 2001 | 2014 | ||||
|
10 | 0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv | 0.700 | 1.000 | 19 | 2000 | 2017 | |||||
|
16 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 0.700 | 1.000 | 18 | 2005 | 2018 | |||
|
11 | 0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 18 | 1990 | 2015 | |||
|
10 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 0.700 | 1.000 | 16 | 2001 | 2017 | ||||
|
11 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 0.710 | 1.000 | 16 | 1999 | 2014 | ||||
|
10 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 14 | 1998 | 2016 | |||||
|
10 | 0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 12 | 2000 | 2017 | ||||
|
10 | 0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv | 0.700 | 1.000 | 12 | 2000 | 2018 | |||||
|
10 | 0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 10 | 2002 | 2016 |