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 | 1 | 117708553 | regulatory region variant | A/C | snv | 0.16 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
6 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
3 | 2 | 168457008 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
2 | 3 | 141904462 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
3 | 1 | 23520972 | missense variant | C/A | snv | 0.45 | 0.39 | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||
|
4 | 17 | 81558634 | 3 prime UTR variant | A/G | snv | 0.24 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
12 | 5 | 1104823 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
3 | 10 | 24569461 | intergenic variant | A/G | snv | 0.21 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
5 | 2 | 62296430 | TF binding site variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
5 | 2 | 8616053 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
2 | 14 | 74080615 | intron variant | T/A | snv | 0.17 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
3 | 9 | 132985025 | intron variant | G/A | snv | 5.3E-02 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 2 | 60498316 | intron variant | G/C;T | snv | 0.39 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
4 | 14 | 23025068 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
2 | 16 | 31393250 | upstream gene variant | T/C | snv | 0.45 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
3 | 17 | 21253548 | upstream gene variant | C/T | snv | 0.25 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
2 | 17 | 82522640 | intron variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
2 | 2 | 58770577 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 19 | 32581179 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
2 | 17 | 35575265 | 3 prime UTR variant | T/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
6 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.700 | 1.000 | 2 | 2013 | 2017 | |||
|
2 | 9 | 129104851 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
2 | 11 | 4107890 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 5 | 1074936 | intron variant | A/G | snv | 0.91 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 5 | 1058272 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2017 |