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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
28 | 0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
25 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
12 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 0.030 | 1.000 | 3 | 2009 | 2011 | ||||
|
11 | 0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.200 | 5 | 159333192 | intron variant | TTAGAG/GC | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 9 | 117713471 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 153703650 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 12 | 10125310 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 15 | 41863503 | intron variant | G/C;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 |