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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 6 | 22343363 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 6 | 16744456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
6 | 0.827 | 0.120 | 16 | 30474072 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 16 | 85982722 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 4 | 74094279 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 8 | 23109256 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 17 | 40007042 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
7 | 11 | 118210555 | missense variant | C/T | snv | 4.0E-03 | 3.5E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
5 | 4 | 73838282 | 3 prime UTR variant | C/T | snv | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1.000 | 0.040 | 12 | 51912002 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
12 | 0.851 | 0.240 | 11 | 61803910 | 5 prime UTR variant | G/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 3 | 12225304 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
7 | 14 | 24992783 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 7 | 28237488 | intron variant | C/G;T | snv | 0.70 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 1 | 159549102 | intergenic variant | G/A | snv | 0.84 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||
|
2 | 16 | 84549359 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 6 | 31279426 | intron variant | A/G;T | snv | 0.37 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
7 | 1 | 109928142 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
8 | 1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
6 | 7 | 44969742 | missense variant | A/G | snv | 0.87 | 0.88 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
12 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2019 |