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 | 1 | 100671474 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1 | 205707135 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 204561374 | downstream gene variant | G/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 12045275 | intergenic variant | T/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 234882181 | intron variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 160620975 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 206481155 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 107794486 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 101160327 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 226986191 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 92268212 | intron variant | C/G | snv | 5.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1 | 161639782 | intergenic variant | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 9295413 | intron variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 20819929 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 229535217 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 41905743 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1 | 235926855 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 169696491 | intron variant | T/C | snv | 0.29 | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 2556224 | 5 prime UTR variant | C/A | snv | 0.51 | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 93129749 | intron variant | G/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 1211405 | 3 prime UTR variant | G/C | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1 | 23872874 | 3 prime UTR variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 23872873 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |