| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1 | 204457167 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 198929028 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 9 | 116471779 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 10 | 68203197 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 6 | 139950220 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 9 | 23587029 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 157481309 | 3 prime UTR variant | C/T | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 157517191 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 91915926 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
10 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 12 | 66015587 | regulatory region variant | C/A | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 10 | 103879853 | 3 prime UTR variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 150276693 | intron variant | C/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 86737797 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 58029609 | intron variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 4 | 105845273 | intron variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 16 | 75377547 | intron variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 0.040 | 1 | 91611540 | TF binding site variant | G/A | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1 | 26470431 | 3 prime UTR variant | G/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 4 | 55145982 | intergenic variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 20 | 46858178 | upstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 52891207 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 21 | 33996101 | intergenic variant | G/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 7 | 156334552 | intergenic variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 7 | 84940194 | non coding transcript exon variant | C/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 |