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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 6 | 2009 | 2019 | |||||||||
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.800 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
16 | 56972678 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2019 | |||||||||||
|
0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv |
|
0.800 | 1.000 | 3 | 2011 | 2018 | |||||||||
|
0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
15 | 63104668 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
19 | 54288907 | intergenic variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
1 | 39562508 | non coding transcript exon variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
1 | 230164840 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
1.000 | 0.200 | 12 | 109562388 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 |