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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.700 | 1.000 | 19 | 1991 | 2015 | ||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.700 | 1.000 | 14 | 1997 | 2014 | |||
|
2 | 1.000 | 0.120 | 5 | 112838740 | stop gained | G/A | snv | 0.700 | 1.000 | 14 | 1992 | 2011 | |||||
|
14 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 0.700 | 1.000 | 13 | 1992 | 2015 | |||||
|
7 | 0.827 | 0.120 | 5 | 112839979 | frameshift variant | AGAG/-;AG | delins | 0.700 | 1.000 | 11 | 1992 | 2016 | |||||
|
2 | 0.925 | 0.120 | 5 | 112840205 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 11 | 1992 | 2011 | |||||
|
2 | 1.000 | 0.120 | 5 | 112838743 | frameshift variant | C/- | del | 7.0E-06 | 0.700 | 1.000 | 11 | 1992 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 112837903 | stop gained | C/G | snv | 0.700 | 1.000 | 10 | 1992 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112840229 | frameshift variant | TGAAA/- | delins | 0.700 | 1.000 | 10 | 1992 | 2011 | |||||
|
1 | 1.000 | 0.120 | 5 | 112841364 | frameshift variant | A/- | delins | 0.700 | 1.000 | 10 | 1992 | 2015 | |||||
|
7 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 0.700 | 1.000 | 10 | 1993 | 2015 | |||||
|
2 | 0.925 | 0.120 | 5 | 112837563 | frameshift variant | GAGA/-;GA | delins | 0.700 | 1.000 | 10 | 1991 | 2015 | |||||
|
2 | 1.000 | 0.120 | 5 | 112838397 | stop gained | -/A | delins | 0.700 | 1.000 | 10 | 1992 | 2017 | |||||
|
2 | 1.000 | 0.120 | 5 | 112837593 | stop gained | C/T | snv | 0.700 | 1.000 | 10 | 1992 | 2016 | |||||
|
2 | 1.000 | 0.120 | 5 | 112840055 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 9 | 1992 | 2011 | |||||
|
6 | 0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 | 0.700 | 1.000 | 9 | 1993 | 2016 | ||||
|
2 | 0.925 | 0.120 | 5 | 112840063 | frameshift variant | -/T | delins | 0.700 | 1.000 | 9 | 1994 | 2013 | |||||
|
5 | 0.882 | 0.120 | 5 | 112838774 | frameshift variant | ACAAA/- | delins | 0.700 | 1.000 | 9 | 1992 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112841965 | stop gained | T/A | snv | 0.700 | 1.000 | 8 | 1992 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112839170 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 8 | 1991 | 2010 | |||||
|
1 | 1.000 | 0.120 | 5 | 112839511 | frameshift variant | TAAAA/- | delins | 0.700 | 1.000 | 8 | 1992 | 2015 | |||||
|
2 | 1.000 | 0.120 | 5 | 112841644 | frameshift variant | C/- | delins | 0.700 | 1.000 | 8 | 1992 | 2015 | |||||
|
5 | 0.925 | 0.120 | 5 | 112839942 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1993 | 2016 | ||||
|
10 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 0.700 | 1.000 | 8 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 112838770 | frameshift variant | TAAAA/- | delins | 0.700 | 1.000 | 8 | 1992 | 2015 |