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 | 3 | 141587171 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 6 | 108606639 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 226258868 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1 | 218436360 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 17 | 61419916 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 6 | 34859308 | missense variant | A/G;T | snv | 4.0E-06; 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 18 | 43188344 | intergenic variant | A/T | snv | 0.43 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 9 | 23234310 | intron variant | A/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 152675675 | intron variant | A/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 18717009 | intron variant | A/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 6 | 34471792 | intron variant | A/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 14 | 25458973 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 3 | 129615390 | intergenic variant | C/A | snv | 0.63 | 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 | ||||||
|
4 | 1.000 | 0.080 | 18 | 60192330 | upstream gene variant | C/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 6 | 32185629 | 3 prime UTR variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 231939445 | intergenic variant | C/A | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 18 | 60172536 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 2 | 24927247 | intergenic variant | C/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 3 | 134472461 | regulatory region variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 47508395 | intron variant | C/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 12 | 123964676 | intron variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 6 | 43790159 | downstream gene variant | C/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 12 | 54027692 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |