| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.810 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 111352511 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 3 | 2010 | 2015 | |||||||||
|
0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2015 | 2019 | |||||||||
|
0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 19 | 10467167 | missense variant | C/A;T | snv | 0.17; 4.8E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 12 | 10444608 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.120 | 4 | 79966815 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.827 | 0.120 | 2 | 203843041 | intergenic variant | T/-;TT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.160 | 12 | 56042145 | 5 prime UTR variant | C/A;G;T | snv | 8.0E-06; 8.0E-06; 0.62; 1.1E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 40370622 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 16 | 30474072 | missense variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 12 | 56350492 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.160 | 2 | 218145423 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 5 | 10521556 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 17 | 67873957 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 |