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 | 0.200 | 12 | 21908099 | missense variant | G/A | snv | 0.810 | 1.000 | 4 | 2012 | 2018 | |||||
|
1 | 1.000 | 0.200 | 12 | 21842440 | missense variant | C/A;T | snv | 0.800 | 1.000 | 4 | 2012 | 2015 | |||||
|
5 | 0.851 | 0.200 | 12 | 21842327 | missense variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2012 | 2015 | |||||
|
2 | 0.925 | 0.200 | 12 | 21842326 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.200 | 12 | 21844884 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2012 | 2015 | |||||
|
2 | 0.925 | 0.200 | 12 | 21842441 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.200 | 12 | 21845641 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.200 | 12 | 21933888 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.200 | 12 | 21773424 | missense variant | C/T | snv | 0.720 | 0.500 | 2 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.200 | 12 | 21910852 | missense variant | C/A | snv | 0.700 | 1.000 | 3 | 2012 | 2015 | |||||
|
9 | 0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.200 | 12 | 21828977 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 12 | 21766472 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 21805251 | frameshift variant | -/A | ins | 4.0E-06; 4.0E-06; 5.4E-04 | 0.700 | 0 |