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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.800 | 1.000 | 20 | 1997 | 2016 | |||
|
4 | 0.882 | 0.360 | 7 | 92503169 | frameshift variant | -/A | delins | 5.0E-04 | 5.1E-04 | 0.700 | 1.000 | 10 | 1999 | 2017 | |||
|
3 | 0.882 | 0.360 | 7 | 92517275 | splice donor variant | C/A;T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 1997 | 2015 | |||
|
2 | 0.925 | 0.240 | 7 | 92501923 | stop gained | G/A | snv | 1.6E-05 | 4.9E-05 | 0.700 | 1.000 | 5 | 1999 | 2011 | |||
|
3 | 0.882 | 0.360 | 7 | 92504812 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 4 | 1997 | 2001 | ||||
|
1 | 1.000 | 0.240 | 7 | 92517946 | stop gained | G/T | snv | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.240 | 7 | 92518043 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.240 | 7 | 92522101 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.240 | 7 | 92506306 | frameshift variant | T/- | delins | 1.6E-05 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.240 | 7 | 92504768 | frameshift variant | TG/- | delins | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.240 | 7 | 92517732 | frameshift variant | TT/- | del | 3.6E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2009 | 2013 | |||
|
1 | 1.000 | 0.240 | 7 | 92517868 | frameshift variant | GTTTG/- | delins | 0.700 | 1.000 | 2 | 2005 | 2009 | |||||
|
2 | 0.925 | 0.240 | 7 | 92507080 | frameshift variant | TG/- | delins | 2.1E-05 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.240 | 7 | 92517603 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 2 | 2005 | 2011 | |||||
|
1 | 1.000 | 0.240 | 7 | 92496736 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.240 | 7 | 92506261 | frameshift variant | CA/- | delins | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.240 | 7 | 92517968 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.240 | 7 | 92504876 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.240 | 7 | 92511624 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.240 | 7 | 92511649 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.240 | 7 | 92517754 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.240 | 7 | 92507020 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.240 | 7 | 92506251 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.240 | 7 | 92501914 | frameshift variant | AG/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.240 | 7 | 92501938 | stop gained | G/A;C | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2002 | 2002 |