| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 566687 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 65020976 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 19 | 18479133 | intron variant | C/T | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
4 | 144104973 | intron variant | C/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 3774964 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
5 | 1068885 | intron variant | G/A | snv | 9.7E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 120077 | intron variant | G/C | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 65802932 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 143225 | intron variant | G/A;T | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 80128718 | intergenic variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 196089324 | intergenic variant | C/T | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
3 | 12226744 | intergenic variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 1112757 | upstream gene variant | G/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 30160096 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
16 | 249924 | intron variant | A/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 248589 | intron variant | A/G | snv | 3.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||||
|
8 | 42598868 | intergenic variant | C/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 80545045 | intron variant | T/C | snv | 2.8E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 47355976 | intron variant | C/- | del | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 88777772 | intron variant | CT/- | delins | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 85392969 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 41732218 | intron variant | T/G | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 252162 | intron variant | A/G | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 203682799 | 5 prime UTR variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2013 |