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 | 0.827 | 0.280 | 10 | 67875446 | downstream gene variant | T/A | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
8 | 0.776 | 0.320 | 10 | 67915401 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.240 | 9 | 137233223 | missense variant | C/G;T | snv | 4.4E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 20 | 54165807 | stop gained | T/A;G | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.280 | 10 | 67907144 | intron variant | A/G | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 21570274 | intron variant | C/T | snv | 0.16 | 0.14 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
3 | 0.882 | 0.200 | 3 | 190408416 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 2 | 240868986 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.790 | 0.160 | 2 | 240875159 | missense variant | T/C | snv | 4.4E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.280 | 2 | 70958113 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 42735969 | missense variant | C/T | snv | 1.1E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 15 | 48244876 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.160 | 2 | 240878721 | missense variant | G/A;C | snv | 5.9E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 2 | 240871406 | missense variant | G/A;C;T | snv | 1.8E-05; 1.3E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 5 | 177387874 | splice donor variant | G/A | snv | 7.8E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 5 | 177398090 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 12 | 14851655 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 12 | 14912889 | downstream gene variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 11 | 13491931 | downstream gene variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 11 | 13491818 | downstream gene variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 |