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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
24 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
22 | 0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
18 | 0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
16 | 0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
15 | 1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
11 | 0.925 | 0.080 | 9 | 133271182 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 9 | 133268030 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
10 | 1.000 | 0.080 | 9 | 133278860 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 9 | 133274306 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 9 | 133267960 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 9 | 133266942 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 9 | 133271249 | intron variant | A/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
7 | 0.851 | 0.120 | 4 | 186292729 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 9 | 133266804 | intron variant | G/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
6 | 0.882 | 0.120 | 4 | 154623920 | upstream gene variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 |