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 | 7 | 81729735 | missense variant | C/T | snv | 4.6E-02 | 4.3E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
7 | 81756276 | 3 prime UTR variant | G/C | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 81756276 | 3 prime UTR variant | G/C | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 81728759 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.120 | 7 | 81720096 | intron variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 81720096 | intron variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
7 | 81753374 | intron variant | C/T | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 7 | 81752250 | splice region variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 7 | 81720892 | intron variant | A/G | snv | 0.84 | 0.85 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.925 | 0.040 | 7 | 81735119 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||||
|
0.925 | 0.040 | 7 | 81735119 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 81720907 | intron variant | G/A | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 7 | 81720892 | intron variant | A/G | snv | 0.84 | 0.85 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.040 | 7 | 81734871 | intron variant | C/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 7 | 81734871 | intron variant | C/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
7 | 81707297 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 7 | 81699165 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.040 | 7 | 81726133 | intron variant | T/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 7 | 81726133 | intron variant | T/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 7 | 81701064 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 7 | 81729639 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |