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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.080 | 1.000 | 8 | 2009 | 2019 | |||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.050 | 0.800 | 5 | 2016 | 2020 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 0.667 | 3 | 2013 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 46278228 | synonymous variant | C/A;T | snv | 4.0E-06; 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 159295272 | intron variant | T/C | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 159283882 | upstream gene variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 10920487 | regulatory region variant | G/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.080 | 1 | 43179740 | intron variant | G/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 1 | 13607281 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 12202039 | missense variant | A/G | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 49 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 55881198 | intron variant | C/T | snv | 0.36 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2017 |