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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 7 | 92779056 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 2 | 212959321 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
3 | 3 | 128597592 | intergenic variant | A/G | snv | 0.13 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||||
|
3 | 1 | 199043349 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 2 | 233206983 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 11 | 128315955 | regulatory region variant | G/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1 | 150623061 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
8 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 1.000 | 0.040 | 4 | 102527974 | intron variant | A/G | snv | 1.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
6 | 0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 7 | 113142501 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 12 | 4209557 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 3 | 128587914 | regulatory region variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 7 | 50376454 | intron variant | G/T | snv | 1.0E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 1 | 8444361 | intron variant | C/A | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
6 | 0.851 | 0.040 | 10 | 62637778 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 3 | 3111655 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 14 | 75509305 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
10 | 18 | 63253621 | intron variant | C/T | snv | 2.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 1 | 198697103 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 2 | 96535945 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 1.000 | 0.080 | 3 | 12293492 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 2 | 2016 | 2019 |