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 | 1.000 | 0.160 | 22 | 39167907 | intergenic variant | -/A | delins | 0.68 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 3 | 41856512 | intron variant | -/AATATATATATA | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.160 | 3 | 41765956 | intron variant | -/TA | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 7 | 21902051 | 3 prime UTR variant | A/C | snv | 0.34 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 41943711 | intron variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41809193 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 169852453 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 41795066 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41949337 | intron variant | A/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41924373 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41874124 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41809828 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41881808 | intron variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.160 | 16 | 85951755 | downstream gene variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.160 | 3 | 41910953 | intron variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.160 | 3 | 41910811 | intron variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41770801 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41962935 | upstream gene variant | A/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41802099 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.160 | 3 | 41709513 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41935972 | intron variant | A/C | snv | 0.13 | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 |