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 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 19 | 1123379 | intron variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 16 | 11310036 | intron variant | C/T | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 11312946 | intron variant | C/T | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 116495665 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
1.000 | 0.080 | 1 | 116558335 | intron variant | A/G | snv | 0.28 |
|
0.810 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.882 | 0.200 | 1 | 116561593 | intron variant | A/G | snv | 0.19 |
|
0.820 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.925 | 0.160 | 1 | 116720516 | regulatory region variant | C/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 118883644 | upstream gene variant | C/A | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.882 | 0.200 | 3 | 119399949 | intron variant | T/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 3 | 119431989 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.710 | 0.500 | 1 | 2011 | 2012 | |||||||
|
0.882 | 0.160 | 3 | 119501087 | intron variant | G/A | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 12035555 | splice region variant | T/C | snv | 4.0E-02 | 7.3E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.200 | 9 | 120927961 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 121941817 | 3 prime UTR variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 122050675 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 122074340 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 3 | 122077921 | splice region variant | G/A | snv | 7.0E-02 |
|
0.820 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 20 | 1225242 | upstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2009 | 2011 |