| 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 | 0.973 | 149 | 2004 | 2020 | |||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.900 | 0.945 | 42 | 2007 | 2019 | ||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.853 | 34 | 1997 | 2017 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.806 | 31 | 2002 | 2019 | |||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.100 | 0.913 | 23 | 2008 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.900 | 0.964 | 19 | 2007 | 2019 | |||||||||
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.900 | 1.000 | 15 | 2008 | 2019 | ||||||||
|
0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 |
|
0.900 | 1.000 | 12 | 2008 | 2019 | ||||||||
|
0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 |
|
0.900 | 1.000 | 12 | 2008 | 2019 | ||||||||
|
0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 |
|
0.900 | 1.000 | 11 | 2007 | 2018 | ||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.900 | 1.000 | 11 | 2008 | 2019 | ||||||||
|
0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv |
|
0.100 | 0.900 | 10 | 2008 | 2019 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.100 | 1.000 | 10 | 2004 | 2019 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.100 | 0.800 | 10 | 2003 | 2010 | |||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.890 | 0.938 | 9 | 2007 | 2019 | ||||||||
|
0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 |
|
0.090 | 0.778 | 9 | 2010 | 2019 | ||||||||
|
0.827 | 0.120 | 18 | 48932662 | intron variant | T/C | snv | 0.25 |
|
0.780 | 1.000 | 8 | 2007 | 2018 | ||||||||
|
0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 |
|
0.870 | 1.000 | 7 | 2008 | 2016 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.070 | 0.857 | 7 | 2013 | 2019 | ||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.060 | 0.833 | 6 | 2008 | 2017 | |||||||||
|
0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 |
|
0.860 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2007 | 2018 | ||||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.050 | 1.000 | 5 | 2014 | 2019 |