| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 28463094 | intron 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 | ||||||||||
|
1 | 101186966 | upstream gene variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 51967869 | intron variant | C/G | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 150623061 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 27068541 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 92693719 | intron variant | A/- | delins | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 129592027 | intron variant | C/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 102578181 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 4 | 102527974 | intron variant | A/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 48941172 | intron variant | AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 128603031 | intergenic variant | G/- | delins | 0.89 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 4639054 | missense variant | T/C | snv | 1.7E-03 | 1.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
14 | 77396337 | intron variant | C/- | delins | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31261530 | intergenic variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
19 | 48640988 | intron variant | -/G | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 16744456 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 75812976 | intron variant | C/T | snv | 4.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 10186296 | intron variant | C/G | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 93951185 | missense variant | T/C | snv | 3.3E-02 | 3.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |