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 | 11 | 48030514 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 48042642 | intron variant | G/A | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 47368220 | intron variant | C/G | snv | 1.1E-02 | 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 | ||||||
|
2 | 11 | 47576929 | intron variant | G/A | snv | 1.0E-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 | ||||||
|
2 | 11 | 47762062 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 11 | 47351874 | intron variant | T/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 47796758 | intron variant | C/T | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 47552529 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 11 | 47543586 | intron variant | T/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 47743354 | intron variant | G/A;T | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133253385 | non coding transcript exon variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133253738 | non coding transcript exon variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133253973 | non coding transcript exon variant | A/G | snv | 0.27 | 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 | ||||||
|
1 | 9 | 133253276 | non coding transcript exon variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133253350 | non coding transcript exon variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133265051 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133402020 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133265724 | intron variant | T/C | snv | 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 | ||||||
|
1 | 9 | 133261560 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |