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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||||
|
1 | 18 | 49580782 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
2 | 18 | 49579658 | intron variant | C/T | snv | 5.6E-03 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 18 | 49593209 | 3 prime UTR variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 18 | 49572816 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 18 | 49559070 | upstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 18 | 49569492 | missense variant | C/T | snv | 1.7E-04 | 2.7E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 18 | 49562460 | intron variant | C/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 18 | 49592553 | 3 prime UTR variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 18 | 49560628 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 18 | 49571028 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 18 | 49562320 | synonymous variant | C/A;T | snv | 9.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 |