| 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 | 4 | 81564902 | intron variant | T/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 19759310 | intron variant | G/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 48632630 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 18910613 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 21 | 36461453 | synonymous variant | G/A | snv | 0.21 | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 8 | 61236323 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 20 | 54125508 | regulatory region variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 5 | 177370342 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 22 | 23030688 | intergenic variant | G/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 36737884 | regulatory region variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 20 | 54114863 | intergenic variant | A/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 11 | 110145794 | intron variant | T/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 122294618 | downstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 18543778 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 115738963 | intron variant | C/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |