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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 |
|
0.700 | 1.000 | 11 | 2010 | 2019 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.900 | 1.000 | 11 | 2009 | 2020 | |||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.900 | 0.953 | 11 | 2007 | 2019 | ||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.900 | 0.955 | 10 | 2007 | 2019 | ||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.800 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
13 | 53528071 | intron variant | G/A;T | snv | 0.12 |
|
0.700 | 1.000 | 10 | 2015 | 2019 | ||||||||||
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.800 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.800 | 1.000 | 10 | 2009 | 2019 | |||||||
|
0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
19 | 47065746 | 3 prime UTR variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 10 | 2010 | 2019 | ||||||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.800 | 1.000 | 10 | 2010 | 2019 | |||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.800 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 9 | 2011 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 9 | 2011 | 2019 | ||||||||
|
0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 |
|
0.840 | 0.929 | 9 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 5 | 75719417 | upstream gene variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 9 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 9 | 2010 | 2019 | |||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 9 | 2007 | 2018 | ||||||||
|
0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 |
|
0.800 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 9 | 2007 | 2019 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 9 | 2012 | 2019 | |||||||||
|
0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 9 | 2011 | 2018 |