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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.950 | 20 | 1997 | 2007 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.870 | 23 | 2002 | 2018 | |||||||||
|
0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.080 | 13 | 72432915 | intergenic variant | T/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 7 | 76304395 | downstream gene variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 7 | 107904960 | missense variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.240 | 10 | 8047173 | intron variant | T/G | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.200 | 1 | 99580690 | intron variant | T/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.240 | 4 | 86785353 | missense variant | T/G | snv | 0.42 | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.040 | 1.000 | 4 | 2013 | 2015 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 1.000 | 2 | 2006 | 2016 | ||||||||
|
0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 |
|
0.020 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.882 | 0.120 | 9 | 99153883 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 1 | 226225766 | missense variant | T/C;G | snv | 2.8E-05; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 66360270 | 3 prime UTR variant | T/C;G | snv | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |