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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.020 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
1.000 | 0.080 | 4 | 102616617 | 3 prime UTR variant | G/A;T | snv | 5.0E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 102616617 | 3 prime UTR variant | G/A;T | snv | 5.0E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 4 | 102501347 | 5 prime UTR variant | C/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 4 | 102501347 | 5 prime UTR variant | C/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 102588298 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.240 | 4 | 102607651 | splice region variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.240 | 4 | 102607651 | splice region variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.240 | 4 | 102607651 | splice region variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.060 | 1.000 | 6 | 2011 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.050 | 1.000 | 5 | 2011 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 102555009 | intron variant | T/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 102587667 | intron variant | A/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.040 | 1.000 | 4 | 2014 | 2016 | |||||||||
|
0.925 | 0.040 | 4 | 102593288 | non coding transcript exon variant | C/G | snv | 0.42 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.925 | 0.040 | 4 | 102593288 | non coding transcript exon variant | C/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |