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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 6 | 409119 | 3 prime UTR variant | A/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 5 | 15783487 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 31335547 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 9 | 6231239 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 167467033 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 10 | 8564051 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.080 | 4 | 122432277 | downstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.200 | 5 | 132442760 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 2 | 113117988 | 5 prime UTR variant | A/G | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.080 | 20 | 3669587 | missense variant | A/G | snv | 0.13 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 5 | 142153497 | 3 prime UTR variant | A/G | snv | 0.65 | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 3 | 159428036 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 3 | 188683350 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 39952455 | upstream gene variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 17 | 39958108 | intron variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.120 | 1 | 173194429 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 3 | 141431184 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 5 | 110823145 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 |