| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 21 | 34444399 | downstream gene variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 9 | 79730966 | downstream gene variant | G/A | snv | 0.78 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 154878308 | downstream gene variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 31607296 | downstream gene variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 63636988 | downstream gene variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 72962458 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 16 | 11923062 | upstream gene variant | C/T | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||
|
1 | 14 | 20465456 | upstream gene variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 2 | 105254322 | upstream gene variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 38026792 | upstream gene variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 32354931 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 19 | 22921266 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 10723329 | upstream gene variant | A/C;T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 85759052 | upstream gene variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 111276855 | 3 prime UTR variant | A/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 4 | 83479177 | 3 prime UTR variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 158733200 | 3 prime UTR variant | G/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 129314893 | 3 prime UTR variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 38483935 | 3 prime UTR variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 126481303 | 3 prime UTR variant | A/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 5428576 | 3 prime UTR variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 16 | 9111506 | 3 prime UTR variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 15 | 40979249 | 3 prime UTR variant | A/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 10 | 129792036 | splice donor variant | T/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 10887020 | 5 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |