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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.040 | 14 | 68520282 | intron variant | G/A | snv | 0.90 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.040 | 12 | 55721994 | 3 prime UTR variant | C/A | snv | 0.19 | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 1 | 196737512 | synonymous variant | C/T | snv | 1.0E-02 | 8.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 10 | 122456049 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 3 | 99701009 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.040 | 1 | 196687934 | intron variant | T/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 22 | 32709831 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 16 | 56963437 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 1 | 196846320 | upstream gene variant | T/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 12 | 111694806 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 14 | 68302482 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 3 | 64729479 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.040 | 5 | 39327786 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 17 | 81559795 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 19 | 1031439 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 9 | 70823689 | intron variant | -/C;CC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.040 | 16 | 75200974 | downstream gene variant | C/A | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.040 | 19 | 45245104 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 7 | 100393925 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.160 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 22 | 38080269 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.040 | 6 | 43858890 | TF binding site variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 13 | 31247103 | splice region variant | C/T | snv | 0.40 | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 |