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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.763 | 0.240 | 11 | 66560624 | stop gained | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.160 | 3 | 58197909 | missense variant | G/A;C | snv | 4.8E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.240 | 7 | 129007888 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.240 | 8 | 11484371 | upstream gene variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 6 | 32427949 | intergenic variant | A/G | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 16 | 85960878 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.240 | 1 | 67336688 | intron variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 22 | 21630805 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
4 | 0.851 | 0.160 | 7 | 128949579 | 3 prime UTR variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 19 | 10351837 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 3 | 160595133 | intergenic variant | G/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 1 | 113891324 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | 4 | 971932 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 2 | 191068557 | 3 prime UTR variant | T/C | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 7 | 74123572 | downstream gene variant | T/C | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 1 | 173368608 | upstream gene variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 5 | 151058916 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 6 | 137922602 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |