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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 |
|
0.700 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.827 | 0.120 | 12 | 52519884 | missense variant | C/T | snv | 5.7E-02 | 5.3E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 |
|
0.700 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2009 | 2015 | ||||||||
|
0.807 | 0.120 | 1 | 17395867 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 3 | 2008 | 2015 | ||||||||
|
0.827 | 0.120 | 1 | 228862088 | downstream gene variant | T/G | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2008 | 2015 | ||||||||
|
0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.742 | 0.080 | 15 | 28165345 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.851 | 0.040 | 7 | 130900794 | intron variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.851 | 0.040 | 20 | 2301324 | intron variant | G/A | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.882 | 0.040 | 21 | 41668857 | regulatory region variant | A/T | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.040 | 5 | 1325475 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.882 | 0.040 | 6 | 166981146 | intron variant | A/T | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.790 | 0.080 | 20 | 34077942 | intron variant | A/G | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.851 | 0.040 | 8 | 100012277 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.882 | 0.040 | 7 | 101775373 | intergenic variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.040 | 10 | 8894035 | upstream gene variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.882 | 0.040 | 9 | 22054691 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.040 | 8 | 76562310 | intron variant | T/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 8 | 80479448 | intron variant | G/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 7 | 50136567 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |