| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 41227270 | stop gained | C/A;T | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 310055 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.909 | 1 | 2013 | 2019 | ||||||||
|
0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 |
|
0.850 | 0.800 | 1 | 2013 | 2018 | ||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.820 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.810 | 1.000 | 1 | 2015 | 2016 | |||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2015 | 2016 | |||||||||
|
1.000 | 0.080 | 21 | 29773850 | intron variant | A/C;G | snv |
|
0.810 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 6 | 32632222 | intron variant | G/A | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 |
|
0.760 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 |
|
0.750 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 |
|
0.740 | 1.000 | 1 | 2017 | 2019 | ||||||||
|
0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 |
|
0.740 | 0.600 | 1 | 2011 | 2015 | ||||||||
|
0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv |
|
0.740 | 0.800 | 1 | 2012 | 2018 |