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 | X | 134693838 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | X | 116016501 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | X | 69162993 | synonymous variant | G/A | snv | 0.16 | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | X | 79375360 | intergenic variant | T/C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 22 | 29072468 | upstream gene variant | C/T | snv | 0.65 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 22 | 45336447 | intron variant | G/A | snv | 0.49 | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 22 | 49958329 | upstream gene variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 41674370 | 3 prime UTR variant | A/C;T | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 38199253 | intron variant | A/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 41863520 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 22 | 46046100 | upstream gene variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 21 | 14966851 | missense variant | G/C | snv | 7.9E-02 | 7.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 21 | 42161198 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 21 | 37021267 | downstream gene variant | A/C | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 10678234 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 20 | 40530479 | intergenic variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 32739337 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 20 | 22560277 | intron variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 33878413 | intergenic variant | G/A | snv | 4.1E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 627161 | intergenic variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 20 | 32687779 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 35127974 | intron variant | G/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 34985176 | intron variant | C/T | snv | 0.17 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 20 | 48879230 | regulatory region variant | C/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 11099091 | TF binding site variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 |