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 | 6 | 127115500 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 70511295 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 17 | 19896385 | downstream gene variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 74137483 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 72611184 | intergenic variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 67516476 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1 | 46039475 | downstream gene variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 70512851 | intergenic variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 8 | 75894349 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 3 | 157079820 | upstream gene variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 6 | 34227089 | TF binding site variant | C/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 3 | 12447843 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 17 | 47717340 | regulatory region variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 20 | 6632185 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1 | 184049341 | upstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 9 | 117616205 | intergenic variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 9 | 23234310 | intron variant | A/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 6 | 127111512 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 16 | 28814284 | non coding transcript exon variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 20 | 6645571 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.040 | 19 | 33829949 | intergenic variant | A/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 2 | 231939445 | intergenic variant | C/A | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 46249498 | downstream gene variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 6 | 34231315 | regulatory region variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 |