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 | 4 | 186304150 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 186301446 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 186305519 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 169544768 | intron variant | A/G | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 169506814 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169303213 | non coding transcript exon variant | A/C;T | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169303215 | non coding transcript exon variant | G/A;T | snv | 0.96 | 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 | 9 | 133253385 | non coding transcript exon variant | T/C | snv | 0.27 | 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 | 4 | 186298264 | intron variant | T/C;G | snv | 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 | 4 | 186310896 | intron variant | C/A | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169056816 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169063639 | intron variant | C/T | snv | 1.3E-02 | 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 | ||||||
|
2 | 11 | 48030514 | intron variant | C/T | snv | 1.2E-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 | 1 | 169345192 | intron variant | T/C | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 169459706 | intron variant | C/T | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 169454860 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 169327626 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 169355555 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |