Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 5 | 44874903 | regulatory region variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
11 | 108227629 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
11 | 108317486 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
2 | 214781220 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2014 | |||||||||
|
0.925 | 0.200 | 17 | 43045793 | splice acceptor variant | CCAATTGC/-;CCAATTGCCCAATTGC | delins |
|
0.700 | 1.000 | 13 | 1976 | 2016 | |||||||||
|
17 | 43063885 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2010 | 2015 | |||||||||||
|
0.925 | 0.200 | 17 | 43094549 | frameshift variant | AT/- | del |
|
0.700 | 1.000 | 2 | 2004 | 2016 | |||||||||
|
1.000 | 17 | 43063370 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
17 | 43076486 | splice donor variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.200 | 17 | 43093472 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 17 | 43104958 | splice acceptor variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 43092974 | frameshift variant | -/GAAAAGTGAA | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 17 | 43092959 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
17 | 43095875 | missense variant | T/A;C | snv | 3.6E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | 17 | 43106476 | splice donor variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |