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 | 0.120 | 11 | 121168064 | missense variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 6 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 121168076 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 1999 | 2003 | |||||
|
1 | 1.000 | 0.120 | 11 | 121137648 | missense variant | T/A | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2003 | ||||
|
2 | 0.925 | 0.120 | 11 | 121160301 | missense variant | G/C | snv | 0.800 | 1.000 | 2 | 1999 | 2003 | |||||
|
2 | 0.925 | 0.120 | 11 | 121166703 | missense variant | T/C;G | snv | 0.800 | 1.000 | 2 | 1999 | 2003 | |||||
|
2 | 0.925 | 0.120 | 11 | 121168135 | missense variant | C/A;T | snv | 0.800 | 1.000 | 2 | 1999 | 2003 | |||||
|
1 | 1.000 | 0.120 | 11 | 121187894 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2003 | ||||
|
1 | 1.000 | 0.120 | 11 | 121145754 | missense variant | C/T | snv | 3.1E-04 | 2.9E-04 | 0.700 | 1.000 | 2 | 1999 | 2003 | |||
|
1 | 1.000 | 0.120 | 11 | 121168765 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 1999 | 2003 | ||||
|
1 | 1.000 | 0.120 | 11 | 121129927 | missense variant | A/G | snv | 4.8E-04 | 5.9E-04 | 0.700 | 1.000 | 2 | 1999 | 2003 | |||
|
1 | 1.000 | 0.120 | 11 | 121137885 | missense variant | G/C | snv | 1.5E-04 | 3.1E-04 | 0.700 | 1.000 | 2 | 1999 | 2003 | |||
|
1 | 1.000 | 0.120 | 11 | 121166665 | missense variant | G/A;C | snv | 4.0E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2003 | ||||
|
2 | 0.925 | 0.120 | 11 | 121166652 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2003 | |||||
|
1 | 1.000 | 0.120 | 11 | 121165372 | missense variant | C/A;G;T | snv | 9.6E-06; 8.7E-05; 1.4E-05 | 0.700 | 1.000 | 2 | 1999 | 2003 | ||||
|
1 | 1.000 | 0.120 | 11 | 121137772 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 1999 | 2003 | ||||
|
4 | 0.882 | 0.120 | 11 | 121137586 | missense variant | G/A;T | snv | 5.2E-05 | 0.700 | 1.000 | 2 | 1999 | 2003 | ||||
|
1 | 1.000 | 0.120 | 11 | 121118599 | missense variant | A/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 1999 | 2003 | |||
|
1 | 1.000 | 0.120 | 11 | 121129714 | missense variant | C/A;T | snv | 4.0E-06; 2.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 121130157 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 121187849 | missense variant | A/G | snv | 0.700 | 0 |