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 | 0.160 | 3 | 12608842 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 3 | 12604189 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 4 | 2007 | 2010 | |||||
|
9 | 0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 4 | 2007 | 2010 | |||||
|
2 | 0.925 | 0.160 | 3 | 12604188 | missense variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2007 | 2010 | |||||
|
5 | 0.827 | 0.160 | 3 | 12604182 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 4 | 2007 | 2010 | |||||
|
7 | 0.827 | 0.160 | 3 | 12584624 | missense variant | G/C;T | snv | 0.800 | 1.000 | 4 | 2007 | 2010 | |||||
|
1 | 1.000 | 0.160 | 3 | 12584627 | missense variant | A/T | snv | 0.700 | 1.000 | 3 | 2007 | 2010 | |||||
|
2 | 0.925 | 0.160 | 3 | 12585760 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2007 | 2010 | |||||
|
2 | 0.925 | 0.160 | 3 | 12604202 | missense variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2007 | 2010 | |||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2007 | 2010 | ||||
|
2 | 0.925 | 0.160 | 3 | 12585761 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2007 | 2010 | |||||
|
3 | 0.882 | 0.160 | 3 | 12585745 | missense variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2007 | 2010 |