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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 1 | 67294457 | intergenic variant | T/C | snv | 0.45 | 0.840 | 0.800 | 5 | 2010 | 2019 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.200 | 6 | 31381371 | downstream gene variant | G/A | snv | 0.030 | 1.000 | 3 | 2013 | 2015 | |||||
|
8 | 0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 | 0.820 | 1.000 | 3 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.200 | 1 | 67281340 | downstream gene variant | G/C | snv | 0.23 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
3 | 0.882 | 0.360 | 6 | 31369093 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
5 | 0.851 | 0.440 | 6 | 31090401 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.200 | 6 | 31368641 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
5 | 0.925 | 0.200 | 6 | 31368791 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
6 | 0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.200 | 7 | 150548168 | intergenic variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 7 | 150653887 | intergenic variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 7 | 150533604 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.200 | 2 | 48420887 | TF binding site variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.280 | 16 | 85958099 | intergenic variant | A/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.200 | 7 | 150534221 | intergenic variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 1 | 67281732 | downstream gene variant | A/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.200 | 7 | 150538695 | downstream gene variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.320 | 16 | 85984057 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.200 | 7 | 150536739 | intergenic variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 10 | 62701513 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.200 | 6 | 30992490 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2014 | 2014 |