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 | 11 | 118771376 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.200 | 2 | 181131318 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 4 | 122262050 | intron variant | A/C;G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.040 | 4 | 122473886 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.200 | 8 | 128252343 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.800 | 1.000 | 2 | 2011 | 2012 | |||
|
3 | 0.925 | 0.120 | 5 | 134194449 | 3 prime UTR variant | A/G | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 7 | 37397251 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.807 | 0.280 | 4 | 122297158 | intron variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 30222456 | intergenic variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.790 | 0.320 | 6 | 137651931 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 4 | 122631659 | intron variant | A/G | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.827 | 0.200 | 1 | 2595307 | missense variant | A/G | snv | 0.41 | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 2 | 60943910 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.827 | 0.200 | 22 | 37155567 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.200 | 1 | 167442147 | intron variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1 | 159035859 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 0.827 | 0.280 | 6 | 127957653 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.280 | 6 | 90216893 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 |