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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 2 | 49264671 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 10 | 89981680 | intron variant | G/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 19 | 31552265 | intron variant | GACT/-;GACTGACT | delins | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 10 | 130032376 | intron variant | A/C;T | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 15 | 87879820 | intron variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.240 | 6 | 123540174 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.080 | 1 | 4034008 | regulatory region variant | C/T | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 10 | 6061799 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 1.000 | 0.120 | 11 | 92245852 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 13 | 106686453 | intron variant | C/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 2 | 166773339 | regulatory region variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 2 | 1434216 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.120 | 2 | 67075611 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 12 | 70560684 | synonymous variant | C/T | snv | 1.4E-02 | 3.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 7 | 93719703 | intron variant | C/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 1.000 | 7 | 18464885 | intron variant | G/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 10 | 44368720 | downstream gene variant | C/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.240 | 8 | 35265058 | intron variant | C/T | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.240 | 6 | 36026129 | upstream gene variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 9 | 32867483 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 1.000 | 20 | 945754 | intergenic variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | X | 144281548 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
7 | 0.807 | 0.240 | 4 | 53790270 | intron variant | G/A | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 1.000 | 18 | 8931654 | intergenic variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 1 | 182052148 | downstream gene variant | C/T | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 |