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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 54457420 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||||
|
13 | 42378009 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||||
|
1 | 22376542 | regulatory region variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
8 | 119000461 | intron variant | C/G | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
1.000 | 0.080 | 1 | 22355873 | intergenic variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||
|
5 | 89080244 | intron variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
7 | 38096675 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
6 | 151689119 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
7 | 96504803 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
18 | 62387624 | 3 prime UTR variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
13 | 42377313 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
1 | 22379941 | regulatory region variant | C/T | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
1 | 68191827 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||||
|
1.000 | 0.080 | 8 | 119051303 | intron variant | T/C | snv | 0.59 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||
|
8 | 119001037 | intron variant | C/T | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||||
|
8 | 118995181 | upstream gene variant | T/A | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2009 | 2013 | ||||||||||
|
6 | 151574321 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2013 | |||||||||||
|
8 | 118964303 | intergenic variant | C/A | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2009 | 2013 | ||||||||||
|
1 | 68182033 | intron variant | T/A;C | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||||
|
1.000 | 0.080 | 12 | 53334171 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||
|
2 | 54432570 | regulatory region variant | C/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
6 | 151586613 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
1.000 | 0.080 | 4 | 87852697 | regulatory region variant | T/G | snv | 0.66 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
7 | 38088724 | intergenic variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 3 | 2008 | 2011 |