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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 4 | 2007 | 2012 | |||||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.830 | 1.000 | 4 | 2007 | 2017 | |||||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 3 | 2001 | 2019 | ||||||||
|
0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 3 | 2010 | 2017 | |||||||||
|
0.925 | 0.080 | 2 | 60990407 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.850 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.850 | 1.000 | 2 | 2006 | 2013 | |||||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.820 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2007 | 2014 | |||||||||
|
0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv |
|
0.710 | 1.000 | 1 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2007 | 2010 | |||||||||
|
1.000 | 0.040 | 6 | 29266733 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 10 | 131373856 | intergenic variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2016 | |||||||||
|
1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2014 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 67059360 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 67219915 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 16 | 50631178 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 67233571 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 17 | 42418754 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 50637810 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 2 | 233264857 | intron variant | G/A;C | snv | 0.45; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |