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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.200 | 2 | 181131318 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.120 | 2 | 60908994 | intron variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 3 | 46193709 | intron variant | C/G;T | snv | 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 | ||||
|
5 | 0.882 | 0.200 | 3 | 32973977 | regulatory region variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.160 | 3 | 58571114 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 30222456 | intergenic variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 3 | 30845325 | intron variant | C/T | snv | 9.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.200 | 2 | 68371823 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1 | 159035859 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 7 | 95403792 | downstream gene variant | C/G | snv | 1.4E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 65381775 | intron variant | C/T | snv | 0.45 | 0.800 | 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 | ||||
|
3 | 1.000 | 0.120 | 9 | 120878222 | intron variant | T/C | snv | 0.68 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.160 | 6 | 159068759 | non coding transcript exon variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 6 | 159051263 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 11 | 118742212 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.080 | 6 | 159094277 | non coding transcript exon variant | T/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 |