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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 96504219 | intron variant | T/C | snv | 0.72 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 118964303 | intergenic variant | C/A | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2009 | 2013 | ||||||||||
|
11 | 46700671 | upstream gene variant | T/C | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
3 | 41096181 | regulatory region variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
18 | 62387624 | 3 prime UTR variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
0.925 | 0.120 | 17 | 45727828 | intron variant | T/C;G | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
13 | 42377313 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
8 | 118963431 | intergenic variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
6 | 151687645 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
8 | 118996132 | intron variant | T/C | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
6 | 151625933 | downstream gene variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
6 | 151555680 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
13 | 42371327 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
1.000 | 0.080 | 7 | 96508362 | intron variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
8 | 119027942 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 119022148 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 119027482 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 118911611 | regulatory region variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 151611643 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1 | 68194522 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
7 | 96601374 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 118960457 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
8 | 119021759 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
13 | 42395646 | intron variant | A/G | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
13 | 42398954 | intron variant | C/T | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |