| 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 | 0.120 | 11 | 2299865 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
0.776 | 0.280 | 5 | 1344343 | splice region variant | G/A;T | snv | 0.37; 8.0E-06 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 2 | 201246657 | intron variant | A/G | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 2 | 37368946 | intron variant | C/T | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.925 | 0.120 | 16 | 85894208 | upstream gene variant | C/T | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 18 | 59955055 | TF binding site variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
0.925 | 0.120 | 10 | 88999967 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.925 | 0.120 | 18 | 63126688 | 3 prime UTR variant | T/C | snv | 5.1E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 18 | 63126316 | 3 prime UTR variant | C/T | snv | 5.9E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 18 | 63126261 | 3 prime UTR variant | C/T | snv | 6.0E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.925 | 0.120 | 6 | 32610305 | intergenic variant | C/T | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 4 | 113762688 | upstream gene variant | G/C | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 2 | 241253433 | missense variant | T/C;G | snv | 0.19; 8.4E-05 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.925 | 0.120 | 11 | 2289922 | intergenic variant | T/G | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 15 | 40111456 | upstream gene variant | C/G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 108095668 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.320 | 6 | 32289789 | intron variant | G/A | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.280 | 6 | 32658495 | upstream gene variant | C/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.280 | 8 | 127180736 | intron variant | A/G | snv | 0.30 |
|
0.720 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.200 | 15 | 56048698 | intergenic variant | A/G;T | snv |
|
0.720 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.280 | 6 | 408079 | 3 prime UTR variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 19 | 46765116 | intron variant | G/T | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 2 | 200875545 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 10 | 88999856 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |