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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 22 | 50529598 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 22 | 50529225 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 0.925 | 0.080 | 22 | 50525807 | stop gained | G/A;C;T | snv | 0.13; 1.3E-05; 4.3E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 22 | 50526648 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 1.000 | 22 | 50525908 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 22 | 50526638 | missense variant | T/G | snv | 5.3E-05 | 4.9E-05 | 0.700 | 1.000 | 5 | 1999 | 2013 | ||||
|
1 | 1.000 | 22 | 50528595 | missense variant | C/T | snv | 1.6E-05 | 7.0E-05 | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||
|
1 | 1.000 | 22 | 50528571 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||
|
1 | 1.000 | 22 | 50526474 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 0.700 | 1.000 | 2 | 2005 | 2011 | |||||
|
1 | 1.000 | 22 | 50527629 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2009 | |||||
|
1 | 1.000 | 22 | 50527265 | missense variant | T/C | snv | 1.2E-05 | 9.8E-05 | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||
|
1 | 1.000 | 22 | 50529579 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||||
|
2 | 0.925 | 22 | 50529292 | missense variant | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2005 | |||||
|
1 | 1.000 | 22 | 50526338 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1.000 | 22 | 50526293 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 1.000 | 22 | 50526246 | missense variant | C/T | snv | 7.1E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 22 | 50529564 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1.000 | 22 | 50529548 | missense variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 1.000 | 22 | 50529325 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 22 | 50529213 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 22 | 50529155 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 1.000 | 22 | 50528561 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 1.000 | 22 | 50528550 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1 | 1.000 | 22 | 50527704 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 1.000 | 22 | 50527611 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |