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 | 0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 114360533 | intron variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 5 | 133667444 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.160 | 17 | 39868373 | synonymous variant | C/T | snv | 0.40 | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 2 | 127419801 | splice region variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102270668 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102267515 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 3 | 119399949 | intron variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 4 | 65633298 | intron variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 17 | 39873952 | intron variant | T/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 | 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 | |||||
|
2 | 1.000 | 0.080 | 1 | 202421786 | intron variant | C/T | snv | 3.5E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 16 | 11310036 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 17 | 39872867 | intron variant | C/G;T | snv | 0.720 | 1.000 | 1 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.160 | 17 | 39892980 | intergenic variant | T/C | snv | 0.45 | 0.700 | 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 | ||||
|
5 | 0.882 | 0.200 | 2 | 181131318 | intron variant | A/C;G | snv | 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 | |||||
|
5 | 0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 |