| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 129601368 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
14 | 25034593 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
8 | 129559864 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 181458938 | non coding transcript exon variant | C/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 111078961 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 111586337 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 128619757 | downstream gene variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
16 | 85912844 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 31253891 | intergenic variant | C/A;G | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||||
|
9 | 111158319 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 181459039 | non coding transcript exon variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
5 | 76762684 | intergenic variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 3 | 42864624 | missense variant | T/C | snv | 5.1E-02 | 4.7E-02 |
|
0.700 | 1.000 | 2 | 2013 | 2016 | |||||||
|
2 | 224888625 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 74706839 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 53824615 | upstream gene variant | T/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 33080829 | missense variant | G/C | snv | 0.14 | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 185422035 | regulatory region variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 181459460 | intron variant | TT/-;T;TTT | delins | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 306884 | upstream gene variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 27521170 | intron variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 19 | 18287818 | upstream gene variant | G/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
10 | 97384397 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 10 | 99532633 | upstream gene variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 46323369 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |