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 | 7 | 1234209 | intron variant | A/T | snv | 0.60 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 30747131 | intergenic variant | C/T | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 187995930 | downstream gene variant | T/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2012 | 2018 | ||||||
|
1 | 2 | 113221363 | intron variant | C/G | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||||
|
1 | 17 | 61161860 | intron variant | A/G | snv | 0.62 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 66748526 | regulatory region variant | C/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 169432844 | intron variant | T/C | snv | 0.11 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1.000 | 0.080 | 15 | 53615751 | missense variant | G/A | snv | 0.26 | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2019 | |||
|
4 | 6 | 127114919 | intron variant | C/T | snv | 0.51 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 155225189 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
12 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 6 | 50818295 | upstream gene variant | T/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 0.925 | 0.040 | 20 | 58894018 | intron variant | T/C | snv | 0.70 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 18 | 45607165 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 |