| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 17 | 39876427 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 10 | 62594503 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 10 | 62621908 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 5 | 150898347 | intron variant | A/G | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 10 | 79287626 | intron variant | G/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 10 | 79282718 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 20 | 63717555 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 |
|
0.810 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 68552601 | intron variant | G/C | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 22 | 29767846 | non coding transcript exon variant | C/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 22 | 21574308 | intron variant | C/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 10 | 80491075 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 6 | 30163346 | 5 prime UTR variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 6 | 111526988 | intron variant | A/T | snv | 9.7E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 35333728 | intron variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 32111790 | non coding transcript exon variant | T/C;G | snv |
|
0.810 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.120 | 5 | 151090412 | intron variant | G/A | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.800 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 |
|
0.730 | 1.000 | 1 | 2014 | 2018 | ||||||||
|
0.807 | 0.160 | 20 | 63696229 | 3 prime UTR variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.120 | 20 | 63697746 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2016 | 2017 |