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 |
|
0.060 | 1.000 | 6 | 2007 | 2015 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.040 | 0.250 | 4 | 2010 | 2015 | |||||||||
|
0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv |
|
0.030 | 1.000 | 3 | 2009 | 2018 | |||||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.030 | 1.000 | 3 | 2010 | 2011 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 1.000 | 2 | 1997 | 1998 | |||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.020 | 0.500 | 2 | 2008 | 2011 | ||||||||
|
0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 |
|
0.720 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2008 | |||||||||
|
0.882 | 0.120 | 11 | 2150371 | intron variant | T/C | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.882 | 0.120 | 18 | 676008 | intron variant | G/C | snv | 0.63 |
|
0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del |
|
0.020 | 1.000 | 2 | 1999 | 2009 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2010 | 2013 | ||||||||
|
0.882 | 0.120 | 8 | 128546982 | intron variant | C/T | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |