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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 |
|
0.050 | 1.000 | 5 | 2003 | 2019 | ||||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.050 | 1.000 | 5 | 2014 | 2020 | ||||||||
|
0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 |
|
0.840 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 |
|
0.840 | 1.000 | 4 | 2010 | 2020 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.040 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.776 | 0.320 | 16 | 27362551 | missense variant | A/C;G;T | snv | 0.13; 1.2E-04; 3.6E-05 |
|
0.040 | 1.000 | 4 | 2010 | 2016 | ||||||||
|
0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 |
|
0.840 | 0.929 | 4 | 2010 | 2019 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.040 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 |
|
0.040 | 0.750 | 4 | 2012 | 2018 | ||||||||
|
0.851 | 0.160 | 7 | 7967878 | 3 prime UTR variant | T/A;C | snv |
|
0.040 | 0.750 | 4 | 2014 | 2019 | |||||||||
|
0.776 | 0.440 | 5 | 132060785 | missense variant | C/T | snv | 0.29 | 0.33 |
|
0.040 | 1.000 | 4 | 2004 | 2014 | |||||||
|
0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 |
|
0.040 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.827 | 0.120 | 16 | 27360785 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 |
|
0.040 | 1.000 | 4 | 2006 | 2010 | ||||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.040 | 0.750 | 4 | 2009 | 2020 | |||||||
|
0.882 | 0.080 | 17 | 39900944 | downstream gene variant | G/A;T | snv |
|
0.740 | 1.000 | 4 | 2008 | 2018 | |||||||||
|
0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
0.925 | 0.160 | 17 | 39908216 | splice acceptor variant | T/A;C | snv | 0.40 |
|
0.030 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 |
|
0.030 | 1.000 | 3 | 2005 | 2014 | |||||||
|
0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 |
|
0.030 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.827 | 0.120 | 17 | 40422984 | intergenic variant | C/T | snv | 0.17 |
|
0.030 | 1.000 | 3 | 2009 | 2014 | ||||||||
|
0.807 | 0.200 | 17 | 39926554 | 5 prime UTR variant | T/C | snv | 0.49 |
|
0.730 | 1.000 | 3 | 2008 | 2017 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.030 | 0.333 | 3 | 2005 | 2019 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.030 | 1.000 | 3 | 2012 | 2014 | |||||||
|
0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 |
|
0.030 | 1.000 | 3 | 2007 | 2018 | |||||||
|
0.882 | 0.160 | 6 | 52245936 | upstream gene variant | C/A;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2015 |