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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.720 | 1.000 | 9 | 2006 | 2018 | |||||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.720 | 1.000 | 7 | 2006 | 2008 | |||||
|
2 | 0.925 | 0.160 | 12 | 25227351 | missense variant | G/A | snv | 0.710 | 1.000 | 8 | 2006 | 2013 | |||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.710 | 1.000 | 5 | 1993 | 2011 | |||||
|
3 | 0.882 | 0.280 | 12 | 25227345 | missense variant | C/A | snv | 4.0E-06 | 0.710 | 1.000 | 5 | 2006 | 2013 | ||||
|
2 | 0.925 | 0.160 | 12 | 25245372 | missense variant | T/C | snv | 0.700 | 1.000 | 8 | 2007 | 2014 | |||||
|
3 | 0.882 | 0.160 | 12 | 25245320 | missense variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2002 | 2011 | |||||
|
5 | 0.851 | 0.200 | 12 | 25227346 | missense variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
17 | 0.752 | 0.320 | 12 | 25245277 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 1993 | 2009 | |||||
|
2 | 0.925 | 0.200 | 12 | 25209896 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.240 | 12 | 25245370 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.160 | 12 | 25209908 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.160 | 12 | 25227310 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.200 | 12 | 25209894 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.160 | 12 | 25225717 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |