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 | ||||||
|
2 | 3 | 141904462 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
2 | 14 | 74080615 | intron variant | T/A | snv | 0.17 | 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 | ||||||
|
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 | ||||||
|
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 | ||||||
|
2 | 1 | 158626052 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 5 | 1041318 | downstream gene variant | C/T | snv | 2.6E-03 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 1 | 22377698 | intergenic variant | T/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 14 | 64789470 | intron variant | A/G | snv | 6.5E-02 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 4 | 152741087 | intergenic variant | T/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 2 | 64632896 | 3 prime UTR variant | TTCAAA/- | delins | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 3 | 171699780 | missense variant | G/A | snv | 3.4E-03 | 3.7E-03 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
2 | 9 | 111924025 | intron variant | T/A | snv | 1.0E-02 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 3 | 171724745 | missense variant | C/A | snv | 9.3E-04 | 9.8E-04 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
2 | 5 | 1093396 | intron variant | G/A | snv | 2.3E-03 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 7 | 87492706 | intergenic variant | G/C;T | snv | 0.24 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 17 | 68450932 | intron variant | T/C | snv | 0.68 | 0.68 | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 5 | 154033830 | missense variant | C/T | snv | 0.68 | 0.65 | 0.700 | 1.000 | 2 | 2017 | 2019 |