| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2009 | |||||
|
4 | 0.882 | 0.080 | 12 | 110919133 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 18 | 3253269 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 1 | 201364349 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 1 | 201368212 | missense variant | G/A;T | snv | 4.5E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.080 | 3 | 52451410 | missense variant | G/A;C;T | snv | 4.0E-05; 4.0E-06; 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 52453993 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.040 | 19 | 55157297 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 1 | 201373235 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |