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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 14 | 2011 | 2019 | |||||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.080 | 1.000 | 8 | 2013 | 2018 | |||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.740 | 1.000 | 4 | 2013 | 2017 | |||||||||
|
0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 2013 | 2017 | |||||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.040 | 1.000 | 4 | 2015 | 2017 | ||||||||
|
0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
0.730 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2020 | |||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.030 | 1.000 | 3 | 2011 | 2020 | |||||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 |
|
0.020 | 1.000 | 2 | 2016 | 2020 | ||||||||
|
0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.710 | 1.000 | 1 | 2015 | 2018 | ||||||||
|
0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 8 | 129465577 | intron variant | C/T | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 |