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 | 2 | 179850608 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 154586874 | upstream gene variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 143425433 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 143512879 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 116565497 | intergenic variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 24720211 | intron variant | G/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 133260999 | intron variant | C/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 41366625 | intron variant | T/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 53198102 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 61504509 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 72398837 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 32252149 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 7 | 127440323 | intergenic variant | C/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 133473599 | intron variant | T/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 46398314 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 94371161 | intron variant | T/C | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 72050604 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 127518303 | intergenic variant | T/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 100704613 | intergenic variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 133397056 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 127529843 | intergenic variant | C/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 7 | 133921878 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.040 | 16 | 12437508 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 15 | 51904633 | intron variant | C/G;T | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 31358822 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2018 | 2018 |