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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 11 | 115357179 | intron variant | -/C | delins | 2.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 21318845 | intron variant | -/G | delins | 8.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 53726175 | intron variant | -/GA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 75903368 | intergenic variant | -/GT | delins | 3.0E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.700 | 1.000 | 4 | 2012 | 2019 | ||||
|
1 | 21 | 45150981 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
1 | 12 | 39036246 | intergenic variant | A/C | snv | 0.20 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 11 | 113097929 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
3 | 5 | 96514546 | intron variant | A/C | snv | 0.42 | 0.700 | 1.000 | 3 | 2012 | 2018 | ||||||
|
3 | 1 | 201815159 | intron variant | A/C | snv | 0.48 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||||
|
1 | 2 | 226171887 | intergenic variant | A/C | snv | 0.55 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
7 | 9 | 70383416 | downstream gene variant | A/C | snv | 0.49 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
1 | 14 | 61894303 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 6 | 153060487 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 4 | 28513208 | intron variant | A/C | snv | 0.18 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 2 | 67638833 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 7 | 25910925 | intergenic variant | A/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 8478498 | intron variant | A/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 88684137 | intergenic variant | A/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 18 | 75786573 | intergenic variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 11 | 45851540 | intron variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 8 | 66293006 | intergenic variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 16 | 69515846 | regulatory region variant | A/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 70490408 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 93605958 | intron variant | A/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 |