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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
4 | 18 | 721563 | downstream gene variant | A/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 114804484 | intergenic variant | T/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 7 | 27249498 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 11 | 16235171 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 1 | 112501706 | intron variant | G/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 11 | 1980665 | intron variant | T/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 11 | 61510303 | 3 prime UTR variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 6 | 43312975 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 20021430 | intron variant | G/A | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 6 | 126826023 | intron variant | T/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
12 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 4 | 80246155 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 12 | 89632685 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 12 | 89675499 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 6 | 126879498 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 11 | 1873813 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 5 | 88674534 | intron variant | G/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 1.000 | 0.080 | 12 | 111835695 | downstream gene variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 15 | 74821981 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 |