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 | 9 | 135751066 | intron variant | C/A;T | snv | 0.47; 1.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 14 | 103552118 | upstream gene variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 29249690 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 54886145 | non coding transcript exon variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 22913431 | intron variant | A/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 51143606 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 102299 | regulatory region variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 85129514 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 100433891 | intergenic variant | G/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 37514090 | downstream gene variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 137928042 | intergenic variant | A/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 62659875 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 100322655 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 2 | 160524377 | intergenic variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 173229617 | intron variant | A/C;T | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 153383795 | intergenic variant | C/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 62646060 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 3672560 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 102957679 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 58070529 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 232597385 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 158609502 | intron variant | T/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 62466982 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 12 | 57814381 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 |