| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 2005 | 2014 | |||||||
|
0.882 | 0.040 | 1 | 219275036 | downstream gene variant | C/T | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 1 | 99317401 | intergenic variant | C/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 55052343 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.160 | 1 | 156134832 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.040 | 1.000 | 4 | 2012 | 2018 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 2 | 71808541 | regulatory region variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.200 | 4 | 141733279 | 3 prime UTR variant | A/T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |