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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 169494279 | non coding transcript exon variant | A/-;AA | delins | 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 | ||||||
|
2 | 1 | 169165889 | intron variant | A/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 186302429 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133281464 | intergenic variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 9 | 133258308 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 169508336 | downstream gene variant | A/C | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186301117 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 9 | 133269548 | intron variant | A/C;G;T | snv | 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 | ||||||
|
2 | 1 | 169511938 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 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 | 169491168 | non coding transcript exon variant | A/G | snv | 0.72 | 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 | 133304245 | downstream gene variant | A/G | snv | 7.5E-02 | 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 | ||||||
|
2 | 1 | 169528818 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186303240 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 154596690 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 186264957 | upstream gene variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133269122 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133269582 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |