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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.882 | 0.120 | 12 | 109798819 | missense variant | C/T | snv | 0.810 | 1.000 | 10 | 2010 | 2014 | |||||
|
5 | 0.851 | 0.080 | 12 | 109800666 | missense variant | G/A;T | snv | 7.0E-06 | 0.800 | 1.000 | 15 | 2010 | 2017 | ||||
|
17 | 0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv | 0.800 | 1.000 | 12 | 2010 | 2015 | |||||
|
5 | 0.851 | 0.080 | 12 | 109798823 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 11 | 2005 | 2014 | ||||
|
5 | 0.851 | 0.080 | 12 | 109803009 | missense variant | G/A | snv | 0.800 | 1.000 | 11 | 2010 | 2015 | |||||
|
4 | 0.882 | 0.080 | 12 | 109798820 | missense variant | G/A;T | snv | 0.800 | 1.000 | 10 | 2010 | 2014 | |||||
|
3 | 0.925 | 0.080 | 12 | 109793560 | missense variant | G/C;T | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 2010 | 2014 | ||||
|
5 | 0.851 | 0.160 | 12 | 109784378 | missense variant | G/A;C | snv | 0.700 | 1.000 | 8 | 2009 | 2015 | |||||
|
6 | 0.827 | 0.280 | 12 | 109792695 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2009 | 2011 | |||||
|
4 | 0.882 | 0.120 | 12 | 109800639 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2010 | 2012 | |||||
|
3 | 0.925 | 0.080 | 12 | 109808298 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2012 | 2016 | |||||
|
1 | 1.000 | 0.080 | 12 | 109802993 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 |