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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 17 | 50196661 | missense variant | C/A | snv | 0.800 | 1.000 | 0 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50196525 | stop gained | C/A;T | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 0 | 1988 | 2014 | |||
|
1 | 0.882 | 0.120 | 17 | 50188122 | missense variant | C/T | snv | 0.710 | 1.000 | 14 | 1992 | 2017 | |||||
|
2 | 0.827 | 0.160 | 17 | 50194032 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 12 | 1993 | 2017 | |||||
|
2 | 0.882 | 0.120 | 17 | 50190099 | missense variant | C/G;T | snv | 0.700 | 1.000 | 11 | 1993 | 2016 | |||||
|
1 | 0.925 | 0.120 | 17 | 50197045 | missense variant | C/T | snv | 0.700 | 1.000 | 11 | 1993 | 2015 | |||||
|
7 | 0.790 | 0.240 | 17 | 50195231 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 10 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 50190026 | missense variant | C/G | snv | 0.700 | 1.000 | 8 | 1988 | 2016 | |||||
|
7 | 0.790 | 0.240 | 17 | 50192993 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 8 | 1993 | 2015 | |||||
|
8 | 0.776 | 0.240 | 17 | 50196163 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1991 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50195611 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1993 | 2015 | |||||
|
1 | 0.925 | 0.120 | 17 | 50197983 | missense variant | C/A | snv | 0.700 | 1.000 | 8 | 1993 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 50197234 | splice acceptor variant | C/A;G;T | snv | 0.700 | 1.000 | 7 | 1994 | 2016 | |||||
|
2 | 0.807 | 0.240 | 17 | 50194375 | missense variant | C/A;T | snv | 0.700 | 1.000 | 7 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 50195641 | stop gained | G/A;C | snv | 4.4E-05 | 0.700 | 1.000 | 7 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 50194840 | intron variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 50197992 | missense variant | C/A | snv | 0.700 | 1.000 | 7 | 1993 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50187041 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 2007 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 50194626 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1993 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 50195619 | missense variant | C/G | snv | 0.700 | 1.000 | 5 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 50195666 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 5 | 1994 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 50187059 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1993 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 50187518 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1993 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 50197749 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1993 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 50191491 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 5 | 1994 | 2011 |