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 | 1.000 | 0.240 | 12 | 49185576 | missense variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2007 | 2015 | |||||
|
2 | 1.000 | 0.240 | 12 | 49185161 | missense variant | C/A;T | snv | 0.800 | 1.000 | 4 | 2007 | 2015 | |||||
|
3 | 0.925 | 0.320 | 12 | 49185162 | missense variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2007 | 2015 | |||||
|
1 | 1.000 | 0.240 | 12 | 49185804 | missense variant | T/G | snv | 0.800 | 1.000 | 2 | 2007 | 2015 | |||||
|
1 | 1.000 | 0.240 | 12 | 49185579 | missense variant | G/T | snv | 0.800 | 1.000 | 2 | 2007 | 2015 | |||||
|
1 | 1.000 | 0.240 | 12 | 49185110 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2007 | 2015 | |||||
|
1 | 1.000 | 0.240 | 12 | 49185101 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2008 | 2010 | |||||
|
2 | 0.925 | 0.240 | 12 | 49185446 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.240 | 12 | 49186670 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.240 | 12 | 49185142 | stop gained | G/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.320 | 12 | 49185140 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.240 | 12 | 49185725 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 12 | 49185714 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 49185176 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.240 | 12 | 49185102 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 49185062 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 49185222 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 49186317 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 49185404 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 49186364 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 12 | 49186824 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 49185237 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 12 | 49185218 | missense variant | G/A;T | snv | 0.700 | 0 |