| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 12 | 6992881 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 13 | 45483151 | intron variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 163162632 | intergenic variant | T/C | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 78734132 | regulatory region variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 151345197 | intron variant | A/G | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50339738 | intron variant | T/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50357429 | intron variant | G/T | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50361786 | intron variant | C/T | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50326600 | intron variant | T/G | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 151357494 | intron variant | G/A | snv | 6.7E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 151353528 | intron variant | C/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 16804871 | intron variant | A/G | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.925 | 0.080 | 2 | 168896905 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 151360599 | 3 prime UTR variant | A/G | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 46086891 | intron variant | T/C | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 239648090 | intron variant | A/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 230083723 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 78721263 | intergenic variant | C/T | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 78749373 | TF binding site variant | C/T | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50314567 | intron variant | A/G | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50348637 | intron variant | A/T | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50355253 | intron variant | G/C | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 23959467 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 14 | 27352193 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 13 | 106384996 | downstream gene variant | G/C | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |