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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 4 | 122466445 | intergenic variant | G/A | snv | 0.76 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.160 | 22 | 37137994 | intron variant | G/A | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 18 | 12782449 | downstream gene variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
20 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
25 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.790 | 0.200 | 6 | 32690139 | TF binding site variant | T/C | snv | 6.2E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 10 | 6047878 | intron variant | T/G | snv | 7.2E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 3 | 46212159 | intron variant | C/T | snv | 0.10 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 2 | 100217755 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.120 | 5 | 56146422 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 12 | 6384185 | 5 prime UTR variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 16 | 11377557 | intron variant | C/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 3 | 119502217 | intron variant | T/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 18 | 12885121 | intron variant | G/A | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.200 | 22 | 21568615 | intron variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.776 | 0.240 | 10 | 6053447 | intron variant | A/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 5 | 97021474 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.120 | 13 | 42481900 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 14 | 68793871 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.120 | 2 | 191009521 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 1 | 24870664 | intergenic variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.160 | 5 | 132461855 | non coding transcript exon variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 7 | 22769871 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.120 | 10 | 89002619 | non coding transcript exon variant | G/C;T | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 |