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 | 0.040 | 12 | 32647193 | downstream gene variant | C/T | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 8 | 11841238 | downstream gene variant | A/G | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 7 | 22114836 | downstream gene variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 72938577 | downstream gene variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 156060246 | upstream gene variant | C/G;T | snv | 1.5E-02 |
|
0.810 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 4 | 89876150 | upstream gene variant | A/G | snv | 0.16 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 5 | 53824125 | upstream gene variant | C/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 17 | 45830530 | stop lost | T/C | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
0.840 | 0.500 | 1 | 2011 | 2019 | |||||||
|
1.000 | 0.040 | 1 | 155135691 | splice region variant | G/A;C | snv | 1.1E-02; 3.4E-05 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45829360 | splice region variant | A/C | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 17 | 45825578 | splice region variant | C/T | snv | 0.25 | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 1 | 43475837 | TF binding site variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 17 | 45436075 | 3 prime UTR variant | C/T | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 4 | 2009 | 2012 | |||||||
|
0.882 | 0.080 | 4 | 89725735 | 3 prime UTR variant | G/A | snv | 0.54 |
|
0.780 | 0.900 | 2 | 2007 | 2015 | ||||||||
|
1.000 | 0.040 | 17 | 45835357 | 3 prime UTR variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45835216 | 3 prime UTR variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45835269 | 3 prime UTR variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.925 | 0.120 | 17 | 46025238 | 3 prime UTR variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 16 | 31083850 | 3 prime UTR variant | C/T | snv | 0.42 | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 12 | 40971838 | 3 prime UTR variant | G/A | snv | 6.8E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 10 | 102831636 | 3 prime UTR variant | G/T | snv | 0.14 | 0.10 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 17 | 46027143 | 3 prime UTR variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 46030836 | 3 prime UTR variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 154405854 | 3 prime UTR variant | G/A | snv | 6.3E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |