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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 1 | 159722747 | intergenic variant | T/A | snv | 0.15 |
|
0.800 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.925 | 0.160 | 1 | 162064100 | intergenic variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 116558335 | intron variant | A/G | snv | 0.28 |
|
0.810 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
1 | 159719598 | intergenic variant | T/A | snv | 0.32 |
|
0.700 | 1.000 | 4 | 2012 | 2014 | ||||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 4 | 2004 | 2020 | |||||||
|
1 | 159706221 | upstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 4 | 2012 | 2014 | ||||||||||
|
0.925 | 0.160 | 1 | 159707006 | upstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 4 | 2012 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.700 | 1.000 | 4 | 2008 | 2013 | ||||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 |
|
0.900 | 0.980 | 4 | 2005 | 2019 | |||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.773 | 3 | 2006 | 2020 | |||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 1.000 | 3 | 2007 | 2020 | |||||||
|
1 | 159699194 | intergenic variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||||
|
1 | 159736723 | intergenic variant | T/C | snv | 7.6E-02 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||||
|
1 | 159736770 | intergenic variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||||
|
0.807 | 0.160 | 1 | 196733680 | intron variant | C/T | snv | 0.44 |
|
0.830 | 1.000 | 3 | 2006 | 2019 | ||||||||
|
0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2006 | 2007 | ||||||||
|
1 | 159683809 | intergenic variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||||
|
1.000 | 0.080 | 1 | 74525960 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 74525960 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
1 | 159684073 | intergenic variant | C/A | snv | 5.5E-02 |
|
0.700 | 1.000 | 3 | 2012 | 2014 |