| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 6 | 14715651 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 10 | 99538694 | downstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.200 | 1 | 160876494 | downstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 9 | 136365140 | splice donor variant | C/G;T | snv | 3.3E-03; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 14 | 98202442 | intron variant | GA/-;GAGA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 31142614 | missense variant | G/A;C | snv | 4.0E-06; 0.28 |
|
0.710 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 41829160 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 17 | 64069832 | non coding transcript exon variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
0.710 | 1.000 | 1 | 2006 | 2016 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.830 | 1.000 | 1 | 2009 | 2016 | |||||||||
|
0.827 | 0.120 | 10 | 73909432 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 1 | 159073406 | stop gained | C/A;T | snv | 8.0E-06; 1.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 10 | 92672243 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 7 | 37349706 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.724 | 0.240 | 20 | 63637985 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 9 | 88220811 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.240 | X | 136583619 | downstream gene variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.200 | 9 | 34710263 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 3 | 189897686 | downstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 5 | 159322080 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 |