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 | 1 | 219440433 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1 | 22379941 | regulatory region variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 165721604 | intergenic variant | T/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 154888650 | intron variant | C/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 17 | 17847593 | 3 prime UTR variant | G/A | snv | 0.47 | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.882 | 0.120 | 14 | 92649065 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 4 | 87877132 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 100764930 | intergenic variant | T/C | snv | 5.3E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 7 | 121378525 | intron variant | C/A;T | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 13 | 42554441 | regulatory region variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 0.120 | 16 | 53785257 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 16 | 53780451 | intron variant | G/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 87337331 | missense variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 55581157 | intergenic variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 42108589 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 85497648 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1 | 22356912 | intergenic variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 10 | 75461756 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 10 | 24889935 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 11 | 27706555 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 218461445 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 72343159 | intergenic variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 50755008 | intron variant | T/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |