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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 18 | 721563 | downstream gene variant | A/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
5 | 1.000 | 0.080 | 12 | 111835695 | downstream gene variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 6 | 1620807 | downstream gene variant | T/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
7 | 6 | 26107235 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
15 | 6 | 26104404 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
8 | 10 | 93079967 | downstream gene variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 5 | 7243868 | downstream gene variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 8 | 142979538 | downstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 11 | 61511118 | downstream gene variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
6 | 1.000 | 0.080 | 2 | 26691496 | upstream gene variant | C/T | snv | 0.48 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
5 | 6 | 43294966 | upstream gene variant | A/T | snv | 0.42 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
3 | 3 | 27551369 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
4 | 11 | 13272358 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
3 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 120323648 | upstream gene variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 2 | 26688641 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 18 | 74037957 | upstream gene variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 27645547 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 8 | 2923434 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 3 | 27521497 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 89556543 | upstream gene variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 8 | 11572976 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 6 | 43302413 | splice region variant | C/T | snv | 0.37 | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 |