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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 27484130 | downstream gene variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2012 | 2018 | ||||||||||
|
13 | 42554441 | regulatory region variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 3 | 2014 | 2018 | ||||||||||
|
13 | 42541997 | intergenic variant | C/T | snv | 0.79 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
7 | 121343289 | downstream gene variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
11 | 68495902 | intron variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||||
|
6 | 126845927 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2018 | |||||||||||
|
7 | 121145010 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
2 | 165744536 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||||
|
1.000 | 0.040 | 7 | 121329715 | missense variant | G/A;T | snv | 0.44; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.807 | 0.160 | 1 | 22373858 | intergenic variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
1 | 22120823 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||||
|
7 | 121334711 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2012 | 2018 | |||||||||||
|
2 | 165721604 | intergenic variant | T/G | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||||
|
16 | 86681109 | regulatory region variant | G/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
0.882 | 0.120 | 14 | 92649065 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 121393067 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2009 | 2014 | ||||||||
|
13 | 42391558 | intron variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2013 | 2018 | ||||||||||
|
7 | 121378525 | intron variant | C/A;T | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
13 | 42394913 | intron variant | G/T | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
4 | 87931491 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 89058858 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 68735005 | 5 prime UTR variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 130550694 | intergenic variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 37898820 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |