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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | |||||||
|
0.827 | 0.200 | 1 | 231272345 | missense variant | A/G;T | snv | 0.16 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 88595498 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |