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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.710 | 1.000 | 2 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 39248515 | missense variant | T/A;G | snv | 0.22 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 143723149 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.882 | 0.080 | 9 | 19469848 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 55025078 | splice region variant | T/G | snv | 0.11 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 10 | 25385685 | intron variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 72445473 | intergenic variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 12 | 104028030 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 6 | 32692805 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 6 | 32703120 | downstream gene variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 6 | 32699985 | intergenic variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 8 | 133603893 | intergenic variant | T/C;G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 21 | 21017373 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.882 | 0.080 | 17 | 73383923 | missense variant | G/A | snv | 5.3E-02 | 6.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.882 | 0.080 | 11 | 33436311 | intron variant | A/G | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 19 | 39248489 | missense variant | C/G | snv | 0.17 | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 122670278 | intron variant | A/G | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 134989069 | regulatory region variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 15 | 93306014 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 173063177 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 20 | 47205635 | downstream gene variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 5 | 143150821 | intron variant | T/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.080 | 20 | 3430406 | intergenic variant | G/A | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |