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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 5 | 112839549 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
14 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 112828907 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.160 | 3 | 179198937 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
10 | 0.776 | 0.080 | 12 | 50761880 | upstream gene variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.776 | 0.080 | 20 | 62345988 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.776 | 0.080 | 1 | 221872104 | intergenic variant | G/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.790 | 0.080 | X | 9783434 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.763 | 0.160 | 2 | 191722478 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 4 | 93965880 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.752 | 0.160 | 10 | 116727589 | intron variant | T/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 12 | 4296223 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.776 | 0.160 | 12 | 114678547 | intron variant | T/A;G | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 4 | 181892145 | intron variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.080 | 19 | 33036982 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.080 | 8 | 116562277 | intergenic variant | C/G | snv | 9.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.080 | 15 | 92316651 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.080 | 2 | 66738934 | intergenic variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.080 | 12 | 50179650 | intron variant | G/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 |