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 | 0.080 | 1 | 77582646 | intron variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 52786188 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 10 | 56359144 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 5 | 61435631 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 20 | 45877779 | synonymous variant | G/A | snv | 0.56 | 0.52 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
6 | 28354519 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 28354519 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.040 | 6 | 28344679 | intron variant | C/T | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 28331910 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.160 | 6 | 28329086 | intron variant | C/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 6 | 28329086 | intron variant | C/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 28336792 | splice region variant | A/G | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 28275017 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 6 | 28271191 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 7 | 99632145 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 6 | 28427729 | downstream gene variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
6 | 28439044 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 124941988 | intron variant | C/T | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2012 | 2018 |