Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 4 | 74094279 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 8 | 10848901 | downstream gene variant | C/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 17 | 40007650 | downstream gene variant | AA/-;A;AAA | delins | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
9 | 0.925 | 0.080 | 9 | 4763176 | downstream gene variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 8 | 141327691 | downstream gene variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 9 | 136427805 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 5 | 173778222 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 17 | 1417822 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 19 | 7782850 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 2 | 113106194 | upstream gene variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 5 | 148820990 | upstream gene variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 8 | 55878685 | upstream gene variant | C/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 10 | 97314229 | upstream gene variant | -/CAGGTTCAAGCGA | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 4 | 73835795 | upstream gene variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 17 | 45618793 | upstream gene variant | A/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 6 | 29955314 | upstream gene variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 12 | 69338325 | TF binding site variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.925 | 0.200 | 6 | 32623176 | TF binding site variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 17 | 40017384 | 3 prime UTR variant | C/T | snv | 9.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 4 | 82631138 | 3 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 15 | 50507898 | 3 prime UTR variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 |