| 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 | 1.000 | 0.040 | 1 | 165745179 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
4 | 0.925 | 0.040 | 1 | 165749742 | intron variant | C/A | snv | 0.88 | 0.700 | 1.000 | 3 | 2012 | 2017 | ||||
|
1 | 1 | 36126011 | upstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 1 | 37627051 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1 | 165763424 | intron variant | C/T | snv | 0.89 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 219049508 | intron variant | C/A | snv | 9.4E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 1 | 31726197 | downstream gene variant | G/C | snv | 0.66 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 1 | 88878573 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 170795774 | intron variant | T/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 170793539 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 86203599 | intergenic variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 218346586 | 5 prime UTR variant | -/CAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 165715441 | intergenic variant | C/T | snv | 5.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 169089868 | intron variant | T/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 219755939 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 112585590 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 86155770 | non coding transcript exon variant | T/G | snv | 9.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 87747331 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 111060860 | intergenic variant | T/G | snv | 0.98 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 219754087 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 11328735 | intergenic variant | T/A | snv | 3.6E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 219009516 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
7 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 218352246 | intron variant | C/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 86271209 | intergenic variant | T/C | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |