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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv |
|
0.710 | 1.000 | 2 | 2011 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 60493454 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 60491939 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 4 | 7209075 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 2 | 60494905 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 3 | 195760605 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 9 | 109419337 | intron variant | T/C | snv | 3.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 14 | 56732364 | upstream gene variant | C/T | snv | 8.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 122088578 | upstream gene variant | T/C | snv | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 5 | 159850278 | intron variant | G/A | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 71067268 | intergenic variant | G/A | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 105998818 | intergenic variant | T/C | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 155652652 | downstream gene variant | TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT | delins | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 5316216 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 72739679 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 5 | 113387870 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60496131 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60495106 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 60498316 | intron variant | G/C;T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 2 | 60491212 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |