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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 102838849 | intron variant | G/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 31357161 | 5 prime UTR variant | C/T | snv | 4.2E-02 | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 31855479 | downstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 30701491 | intron variant | G/T | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.200 | 6 | 31592893 | 5 prime UTR variant | C/T | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 31619265 | upstream gene variant | C/T | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 31072878 | regulatory region variant | -/AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 32135972 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 32514378 | downstream gene variant | -/TGTTTATCCATTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 30807354 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 31762148 | missense variant | C/T | snv | 3.0E-02 | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 32715787 | upstream gene variant | A/T | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 32415796 | TF binding site variant | C/T | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 32424980 | intergenic variant | G/A | snv | 4.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 32450017 | downstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 32374342 | intron variant | A/G | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 31435848 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 32505230 | intergenic variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 32421614 | intergenic variant | A/G | snv | 4.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 128946326 | upstream gene variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
14 | 38214056 | downstream gene variant | C/T | snv | 8.9E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 92487582 | intergenic variant | G/A | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
21 | 26773870 | intergenic variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
11 | 115528028 | downstream gene variant | A/T | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
10 | 60167108 | intron variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |