| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
19 | 19225799 | intron variant | C/T | snv | 9.4E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
2 | 168973645 | intron variant | G/A | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | |||||||
|
1 | 55052794 | splice region variant | A/G | snv | 0.42 | 0.49 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
9 | 104903458 | intron variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
15 | 58438954 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
1.000 | 0.080 | 2 | 21003688 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
8 | 115636338 | intron variant | A/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 39283061 | regulatory region variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
8 | 125479491 | intron variant | G/T | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
8 | 125476008 | intron variant | C/T | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
8 | 125469505 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||||
|
1.000 | 0.320 | 9 | 2640759 | intron variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
1 | 109276674 | downstream gene variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2019 | |||||||||||
|
17 | 78381401 | intron variant | T/G | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
22 | 46231706 | intron variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 123519722 | intron variant | G/A | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
7 | 25952206 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2018 | |||||||||||
|
1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
12 | 8929985 | intron variant | A/G | snv | 8.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||||
|
0.925 | 0.040 | 2 | 43846861 | non coding transcript exon variant | G/A | snv | 6.9E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 |