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 | 3 | 172204265 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 45177866 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 118310352 | regulatory region variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 14 | 29267632 | non coding transcript exon variant | C/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 6738122 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 18 | 60192330 | upstream gene variant | C/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 2 | 25263901 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 138385085 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 3 | 52615732 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.160 | 5 | 8127718 | intergenic variant | T/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 6 | 162612318 | intron variant | A/G | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 75529546 | intergenic variant | A/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 133822202 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.080 | 11 | 17294482 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 2 | 187251469 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 187218396 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 141406863 | intron variant | C/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 6 | 43796814 | intergenic variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 8 | 75961464 | intergenic variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 20 | 35317816 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 33289538 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 12 | 53948900 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 130373797 | TF binding site variant | G/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 |