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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.400 | 16 | 68813322 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.400 | 16 | 68801726 | stop gained | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 0.700 | 1.000 | 8 | 1998 | 2015 | |||||
|
5 | 0.851 | 0.120 | 16 | 68819393 | missense variant | C/G;T | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 2013 | 2018 | ||||
|
7 | 0.851 | 0.240 | 17 | 7673552 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.200 | 16 | 68823432 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 16 | 68815743 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2006 | 2019 | |||||
|
2 | 0.925 | 0.080 | 16 | 68810290 | stop gained | G/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 16 | 68812263 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 11 | 2006 | 2016 | |||||
|
2 | 1.000 | 0.080 | 16 | 68812264 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 11 | 1999 | 2018 | |||
|
2 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 10 | 2002 | 2016 | |||||
|
2 | 1.000 | 0.080 | 16 | 68828296 | stop gained | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/- | del | 0.700 | 1.000 | 8 | 2002 | 2016 | |||||
|
1 | 1.000 | 0.080 | 16 | 68811682 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 7 | 2008 | 2012 | |||||
|
2 | 1.000 | 0.080 | 16 | 68737418 | start lost | G/A | snv | 0.700 | 1.000 | 7 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.080 | 16 | 68737417 | start lost | T/C;G | snv | 0.700 | 1.000 | 6 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.080 | 16 | 68823524 | stop gained | TG/- | delins | 0.700 | 1.000 | 6 | 2004 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 68810240 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.080 | 16 | 68737416 | start lost | A/G | snv | 0.700 | 1.000 | 5 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.080 | 16 | 68801885 | frameshift variant | C/- | delins | 0.700 | 1.000 | 5 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 16 | 68811859 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 1994 | 2016 |