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 | 0.989 | 95 | 2002 | 2020 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.923 | 39 | 2002 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.923 | 39 | 2002 | 2019 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 1.000 | 24 | 2002 | 2018 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.824 | 17 | 1998 | 2016 | |||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.100 | 1.000 | 16 | 2008 | 2018 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.100 | 0.938 | 16 | 2015 | 2020 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.100 | 0.846 | 13 | 2014 | 2019 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.100 | 1.000 | 11 | 2009 | 2017 | ||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.090 | 1.000 | 9 | 2010 | 2019 | ||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.090 | 1.000 | 9 | 2011 | 2019 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.090 | 1.000 | 9 | 2011 | 2019 | |||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.790 | 0.900 | 9 | 2009 | 2018 | ||||||||
|
0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 |
|
0.080 | 0.500 | 8 | 2016 | 2019 | ||||||||
|
0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 |
|
0.070 | 0.571 | 7 | 2016 | 2018 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.070 | 1.000 | 7 | 2012 | 2018 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.070 | 1.000 | 7 | 2004 | 2016 | |||||||||
|
0.724 | 0.320 | 18 | 63319604 | 5 prime UTR variant | G/A;T | snv |
|
0.060 | 1.000 | 6 | 2014 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.060 | 1.000 | 6 | 2011 | 2017 | |||||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
0.060 | 1.000 | 6 | 2012 | 2016 | ||||||||
|
0.724 | 0.200 | 12 | 53963768 | non coding transcript exon variant | C/A;G | snv |
|
0.060 | 1.000 | 6 | 2017 | 2018 | |||||||||
|
0.925 | 0.080 | 12 | 68808776 | intron variant | G/C | snv | 2.3E-02 |
|
0.050 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.050 | 1.000 | 5 | 2012 | 2020 | |||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.050 | 0.800 | 5 | 2013 | 2015 | |||||||||
|
0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 |
|
0.050 | 1.000 | 5 | 2008 | 2019 |