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 | 76861472 | intron variant | T/C | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 11081053 | downstream gene variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.752 | 0.120 | 9 | 22103184 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
20 | 1966633 | intron variant | A/G | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 117414434 | regulatory region variant | T/C | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 154682843 | intergenic variant | G/T | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 171063141 | 3 prime UTR variant | A/G | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 14429763 | intron variant | A/G | snv | 4.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 78773946 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 36708365 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 7259990 | intron variant | C/T | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 110176544 | intron variant | T/C;G | snv | 0.36; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 23491044 | intron variant | T/G | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 18996297 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 39370145 | missense variant | A/G;T | snv | 0.19; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 123414971 | 3 prime UTR variant | G/A | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 6 | 31097294 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 158680261 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 19961706 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 39528080 | non coding transcript exon variant | G/A | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 79415630 | intergenic variant | T/C | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 39265878 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 22746913 | downstream gene variant | G/A | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 79557786 | upstream gene variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |