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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 19 | 51820963 | intron variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2013 | 2019 | |||||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
5 | 10 | 112174128 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
5 | 15 | 58438954 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
4 | 8 | 125470379 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
5 | 4 | 88820118 | intron variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2013 | 2018 | |||||||
|
2 | 7 | 17879635 | 3 prime UTR variant | G/A;T | snv | 0.800 | 1.000 | 3 | 2013 | 2018 | |||||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2012 | 2018 | |||||
|
3 | 1.000 | 0.080 | 19 | 54304302 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||
|
4 | 17 | 43763481 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||||
|
6 | 18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||||
|
4 | 16 | 56959974 | upstream gene variant | A/G | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
3 | 10 | 45517829 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2013 | 2018 | |||||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
4 | 16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||
|
4 | 11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
1 | 18 | 49580782 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
3 | 3 | 52498102 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
1 | 14 | 73783423 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
4 | 15 | 43434427 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||
|
12 | 0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2018 |