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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 |
|
0.020 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 32886920 | regulatory region variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32889642 | intergenic variant | T/A | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32888705 | intergenic variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32888604 | intergenic variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 53893411 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 32891971 | upstream gene variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 10 | 72018509 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 10 | 24315964 | intron variant | G/A | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 3638168 | intergenic variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 12 | 47981692 | intron variant | C/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 12 | 47999743 | non coding transcript exon variant | G/A | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.320 | 17 | 50200388 | intron variant | C/A | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 169164779 | upstream gene variant | A/C | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 6 | 32884870 | intergenic variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 57466149 | intron variant | G/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32894830 | upstream gene variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 1 | 115300189 | intron variant | A/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |