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 | 0.040 | 17 | 80183987 | missense variant | G/A;C | snv | 0.800 | 1.000 | 5 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.040 | 17 | 80183988 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 2012 | 2016 | |||||
|
6 | 0.807 | 0.160 | 17 | 80182790 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 5 | 2012 | 2016 | ||||
|
1 | 1.000 | 17 | 80184012 | missense variant | T/G | snv | 1.1E-03 | 1.0E-03 | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||
|
1 | 1.000 | 17 | 80184015 | missense variant | G/A | snv | 1.2E-04 | 3.5E-05 | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||
|
1 | 1.000 | 17 | 80184152 | missense variant | G/A | snv | 4.7E-04 | 5.5E-04 | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||
|
3 | 0.882 | 0.040 | 17 | 80198545 | missense variant | C/G;T | snv | 4.0E-06; 2.3E-04 | 3.1E-04 | 0.700 | 1.000 | 5 | 2012 | 2016 | |||
|
7 | 0.790 | 0.160 | 17 | 80183976 | missense variant | A/C | snv | 0.700 | 1.000 | 5 | 2012 | 2016 | |||||
|
1 | 1.000 | 17 | 80184209 | missense variant | G/A | snv | 5.2E-05 | 4.2E-05 | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||
|
1 | 1.000 | 17 | 80192521 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||
|
1 | 1.000 | 17 | 80184014 | missense variant | C/A;T | snv | 9.4E-06; 2.8E-05 | 0.700 | 1.000 | 5 | 2012 | 2016 | |||||
|
1 | 1.000 | 17 | 80181643 | missense variant | C/A;T | snv | 6.8E-06; 1.6E-04 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 17 | 80182795 | splice region variant | G/A | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.040 | 17 | 80205094 | missense variant | C/T | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 |