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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.320 | 12 | 88496894 | 3 prime UTR variant | A/G | snv | 0.67 | 0.710 | 0.500 | 2 | 2010 | 2016 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 88524966 | intron variant | T/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 88538258 | intron variant | C/A | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 88522058 | intron variant | G/A | snv | 0.79 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 9 | 818693 | intergenic variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 88471464 | regulatory region variant | T/C | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 88480402 | intergenic variant | G/T | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 88510987 | intron variant | C/T | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 5 | 142276991 | intergenic variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 88532196 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.240 | 12 | 88592239 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.240 | 6 | 33574761 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 33575632 | intron variant | A/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 9 | 802801 | regulatory region variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 5 | 1346188 | non coding transcript exon variant | G/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.882 | 0.200 | 12 | 14500933 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.160 | 5 | 1337791 | intron variant | A/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.776 | 0.280 | 5 | 1344343 | splice region variant | G/A;T | snv | 0.37; 8.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 33589964 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 88545356 | intron variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.120 | 12 | 88559784 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2010 | 2010 |