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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.120 | 1 | 17395867 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||
|
5 | 0.827 | 0.120 | 1 | 228862088 | downstream gene variant | T/G | snv | 0.48 | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||
|
3 | 0.882 | 0.040 | 1 | 228858641 | downstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 1 | 155011887 | intron variant | G/A | snv | 0.22 | 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 | 2019 | 2019 | |||
|
4 | 0.882 | 0.040 | 1 | 150764744 | missense variant | A/G | snv | 5.1E-02 | 5.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.040 | 1 | 241860596 | missense variant | A/G;T | snv | 2.4E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 1 | 110181866 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 1 | 17418040 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 1 | 228843990 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 1 | 17419777 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 11386590 | downstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.040 | 2 | 201350769 | missense variant | C/G | snv | 0.62 | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 201300483 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.200 | 2 | 203876143 | downstream gene variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.040 | 2 | 16280877 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 2 | 5544654 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.040 | 2 | 88254832 | regulatory region variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 201288961 | intron variant | C/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 16299921 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 160500206 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 2 | 7564729 | intergenic variant | G/A | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 3 | 188370530 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 |