| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 19 | 1609670 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 |
|
0.020 | 0.500 | 2 | 2010 | 2018 | |||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2007 | 2018 | ||||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.807 | 0.200 | 17 | 39723966 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.160 | 12 | 132676598 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2007 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 94988980 | synonymous variant | A/T | snv | 6.3E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv |
|
0.100 | 0.900 | 10 | 2008 | 2019 | |||||||||
|
1.000 | 0.080 | 1 | 183143277 | 3 prime UTR variant | A/G | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 14 | 75280415 | 5 prime UTR variant | G/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 47412433 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.080 | 17 | 7674971 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 1 | 109690516 | missense variant | G/A;C;T | snv | 0.36; 6.9E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 47281291 | intron variant | G/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 12 | 1747816 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |