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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 20 | 38148038 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.790 | 0.320 | 10 | 95414595 | missense variant | T/C | snv | 8.2E-02 | 0.13 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
24 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 22 | 37096044 | stop gained | C/A;T | snv | 1.8E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.200 | 1 | 119419519 | missense variant | G/A | snv | 2.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
6 | 0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.120 | 1 | 6333503 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
6 | 0.851 | 0.200 | 19 | 1209715 | intron variant | C/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.776 | 0.320 | 6 | 32038514 | missense variant | C/T | snv | 9.2E-05 | 5.4E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 |