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 | 0.080 | 17 | 40866792 | missense variant | A/G | snv | 0.730 | 1.000 | 17 | 1997 | 2016 | |||||
|
1 | 1.000 | 0.080 | 17 | 40863141 | missense variant | A/C | snv | 0.710 | 1.000 | 14 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 40866801 | missense variant | A/G | snv | 0.700 | 1.000 | 14 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 40866798 | missense variant | T/G | snv | 0.700 | 1.000 | 14 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 40863150 | missense variant | C/G | snv | 0.700 | 1.000 | 14 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 12 | 52791216 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 1997 | 2005 | |||
|
1 | 1.000 | 0.080 | 1 | 208217406 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 40866784 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 40863162 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 40866782 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 40866783 | missense variant | C/A;G | snv | 0.730 | 1.000 | 16 | 1997 | 2014 | |||||
|
2 | 1.000 | 0.080 | 17 | 40866802 | missense variant | T/C | snv | 0.700 | 1.000 | 14 | 1997 | 2014 | |||||
|
2 | 0.925 | 0.080 | 17 | 40866778 | missense variant | C/G | snv | 4.0E-06 | 0.710 | 1.000 | 14 | 1997 | 2014 | ||||
|
2 | 0.925 | 0.080 | 17 | 40863154 | missense variant | A/C | snv | 0.700 | 1.000 | 14 | 1997 | 2014 | |||||
|
2 | 0.925 | 0.080 | 17 | 40866760 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 14 | 1997 | 2014 | ||||
|
2 | 0.925 | 0.080 | 17 | 40866768 | missense variant | A/C | snv | 0.700 | 1.000 | 14 | 1997 | 2014 | |||||
|
2 | 0.925 | 0.080 | 17 | 40863153 | missense variant | T/C | snv | 0.700 | 1.000 | 14 | 1997 | 2014 | |||||
|
2 | 0.925 | 0.080 | 12 | 52791233 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 |