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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 126201454 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
1 | 107135646 | upstream gene variant | G/C | snv | 3.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
4 | 73867169 | upstream gene variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 69338325 | TF binding site variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
3 | 165764276 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
19 | 38301201 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
4 | 87541577 | regulatory region variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
1 | 22617716 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
10 | 52777079 | regulatory region variant | T/G | snv | 0.71 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
5 | 148182067 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 43302407 | downstream gene variant | T/C | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 106685899 | upstream gene variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 100706960 | regulatory region variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 102305323 | regulatory region variant | T/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 80941246 | regulatory region variant | G/T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 80940826 | TF binding site variant | T/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 49576607 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 836043 | upstream gene variant | T/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 36145821 | downstream gene variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 122633543 | regulatory region variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 18271957 | downstream gene variant | -/ACTTA | delins | 0.82 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 71891700 | intergenic variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 136427384 | downstream gene variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 124284185 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |