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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 169506814 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169491168 | non coding transcript exon variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 154582060 | downstream gene variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133278537 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133304245 | downstream gene variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133318489 | downstream gene variant | C/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 154616169 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 154593727 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 154617318 | upstream gene variant | T/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 47899441 | regulatory region variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 47926342 | intergenic variant | C/T | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133289021 | intergenic variant | T/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 169498416 | non coding transcript exon variant | G/A | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 154596690 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169501510 | downstream gene variant | T/G | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169494280 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 169494281 | non coding transcript exon variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
24 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 9 | 133279770 | upstream gene variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 9 | 133280016 | upstream gene variant | G/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133281464 | intergenic variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 9 | 133281560 | intergenic variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 154581717 | downstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 9 | 133303140 | downstream gene variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |