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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.120 | 3 | 89341043 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.160 | 1 | 186880054 | intron variant | A/G | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 14 | 76033960 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 3 | 100872081 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.120 | 19 | 53810777 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.200 | 5 | 177404231 | missense variant | G/C;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 18 | 62354528 | missense variant | C/T | snv | 0.12 | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 20 | 41163423 | missense variant | A/G | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.742 | 0.360 | 18 | 62360008 | missense variant | C/T | snv | 0.54 | 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 |