| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 40000459 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2010 | 2014 | |||||||||||
|
1.000 | 0.080 | 17 | 40010626 | upstream gene variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
2 | 135728087 | downstream gene variant | C/T | snv | 0.97 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 74105479 | intergenic variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
2 | 61476184 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 88449697 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 7048518 | intergenic variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 128603031 | intergenic variant | G/- | delins | 0.89 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 74094279 | downstream gene variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 50218107 | intron variant | T/A | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
8 | 67900953 | intergenic variant | C/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 40007042 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 8853597 | upstream gene variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 142083096 | intergenic variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 53354069 | regulatory region variant | A/T | snv | 7.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 141208279 | intergenic variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 42548053 | regulatory region variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 103718366 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 56439852 | intron variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 87128241 | intergenic variant | GAT/-;GATGAT | delins | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 24377011 | intergenic variant | TT/-;T;TTT;TTTT | delins | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 161639782 | intergenic variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |