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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 10 | 122406099 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.040 | 10 | 122433665 | 3 prime UTR variant | T/G | snv | 0.56 | 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 | |||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 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 | ||||||
|
10 | 0.776 | 0.160 | 4 | 122633552 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 18 | 12747013 | intron variant | C/T | snv | 0.15 | 0.700 | 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 | |||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.800 | 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 | |||||
|
2 | 8 | 128303768 | intergenic variant | G/A | snv | 0.45 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.925 | 0.080 | 18 | 12847137 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 5 | 134194449 | 3 prime UTR variant | A/G | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 2 | 136115275 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
|
5 | 0.925 | 0.280 | 6 | 137638098 | intergenic variant | T/C | snv | 0.16 | 0.700 | 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 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 6 | 137686393 | intron variant | G/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 140204330 | intergenic variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.827 | 0.280 | 5 | 151070675 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1 | 159035859 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 6 | 159042420 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 6 | 159042932 | non coding transcript exon variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 |