| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 11 | 67437991 | 3 prime UTR variant | C/A | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 11 | 1221460 | upstream gene variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.080 | 0.750 | 8 | 2004 | 2015 | |||||||
|
0.925 | 0.080 | 14 | 103716661 | intron variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 2 | 54253232 | 3 prime UTR variant | C/A | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 11 | 47232500 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.160 | 2 | 216108009 | intron variant | G/T | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.689 | 0.600 | 6 | 52185695 | upstream gene variant | C/T | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 11 | 35229771 | 3 prime UTR variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.080 | 14 | 103137232 | 3 prime UTR variant | C/T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 19 | 5561065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 19 | 51692221 | intron variant | G/A;C | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.080 | 8 | 11770112 | 5 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 13 | 32340327 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 1 | 45334495 | missense variant | G/A | snv | 1.1E-03 | 4.9E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.763 | 0.320 | 14 | 77326864 | stop gained | G/A;C;T | snv | 0.31 | 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 14 | 77326894 | missense variant | G/A | snv | 7.0E-02 | 7.0E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.200 | 2 | 175167648 | mature miRNA variant | G/A;T | snv | 4.4E-02; 1.0E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 5 | 132680652 | intron variant | ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- | del |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 15 | 88461409 | non coding transcript exon variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |