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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 5 | 148820448 | upstream gene variant | T/C | snv | 0.59 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 6 | 42229969 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 19 | 3179519 | missense variant | C/G;T | snv | 1.3E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 6 | 107122949 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 1 | 87286317 | intergenic variant | A/T | snv | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
4 | 6 | 135110180 | regulatory region variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 22 | 24225858 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 3 | 50734193 | intron variant | G/A | snv | 9.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 17 | 7839283 | upstream gene variant | G/A | snv | 2.5E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 2 | 65429835 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 3 | 196822218 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 17 | 75805073 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 21 | 33060745 | intron variant | G/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 111090753 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 41905116 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 5 | 132341949 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 90659273 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 90004338 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 103316504 | regulatory region variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 14 | 68713254 | intron variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 116868761 | intergenic variant | G/A | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 14 | 25034593 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 2 | 8299499 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 159712765 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 157664393 | intergenic variant | C/T | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 |