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 | 0.080 | 12 | 120739356 | missense variant | C/T | snv | 9.7E-05 | 7.7E-05 | 0.800 | 1.000 | 11 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 12 | 120737094 | missense variant | C/T | snv | 9.7E-04 | 5.4E-04 | 0.800 | 1.000 | 10 | 1990 | 2014 | |||
|
1 | 1.000 | 0.080 | 12 | 120739347 | missense variant | C/G;T | snv | 4.0E-06; 9.3E-05 | 0.800 | 1.000 | 9 | 1990 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 120737893 | missense variant | T/C;G | snv | 4.5E-04 | 0.800 | 1.000 | 9 | 1990 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 120727115 | missense variant | C/T | snv | 1.6E-04 | 1.1E-04 | 0.800 | 1.000 | 7 | 1990 | 2017 | |||
|
2 | 0.925 | 0.120 | 12 | 120739168 | missense variant | C/T | snv | 2.0E-04 | 2.0E-04 | 0.800 | 1.000 | 7 | 1990 | 2011 | |||
|
1 | 1.000 | 0.080 | 12 | 120738859 | missense variant | C/T | snv | 2.0E-05 | 6.3E-05 | 0.800 | 1.000 | 3 | 1990 | 2001 | |||
|
1 | 1.000 | 0.080 | 12 | 120727143 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 2008 | 2016 | |||
|
1 | 1.000 | 0.080 | 12 | 120739304 | missense variant | G/T | snv | 3.2E-05 | 5.6E-05 | 0.700 | 1.000 | 6 | 2003 | 2013 | |||
|
1 | 1.000 | 0.080 | 12 | 120738874 | missense variant | C/A;T | snv | 4.0E-06; 1.4E-04 | 0.700 | 1.000 | 4 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 120737049 | missense variant | G/T | snv | 3.5E-05 | 0.700 | 1.000 | 3 | 1990 | 2001 | ||||
|
1 | 1.000 | 0.080 | 12 | 120737043 | missense variant | G/A;T | snv | 2.1E-05; 4.2E-06 | 0.700 | 1.000 | 3 | 1990 | 2001 | ||||
|
1 | 1.000 | 0.080 | 12 | 120737939 | missense variant | C/T | snv | 4.4E-05 | 5.6E-05 | 0.700 | 1.000 | 3 | 1990 | 2001 | |||
|
1 | 1.000 | 0.080 | 12 | 120737081 | inframe deletion | GAG/- | delins | 0.700 | 1.000 | 3 | 2001 | 2018 | |||||
|
1 | 1.000 | 0.080 | 12 | 120739141 | missense variant | A/G | snv | 1.0E-04 | 1.4E-05 | 0.700 | 1.000 | 3 | 2008 | 2011 | |||
|
1 | 1.000 | 0.080 | 12 | 120737404 | stop gained | C/G;T | snv | 3.2E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 12 | 120739373 | frameshift variant | TG/- | del | 8.1E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 12 | 120737891 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 12 | 120739196 | splice donor variant | G/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 12 | 120737875 | missense variant | C/T | snv | 2.4E-05; 3.1E-02 | 3.2E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 12 | 120738336 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 12 | 120737835 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120737090 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120738326 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120736985 | splice acceptor variant | G/A | snv | 0.700 | 0 |