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 | 0.280 | 8 | 38428048 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.280 | 8 | 38414164 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.280 | 8 | 38414889 | missense variant | C/A | snv | 0.800 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.280 | 8 | 38427970 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.280 | 8 | 38417954 | missense variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.280 | 8 | 38414876 | missense variant | C/G | snv | 0.800 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.280 | 8 | 38413994 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.280 | 8 | 38414835 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 8 | 38417363 | inframe deletion | ATC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 8 | 38417365 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 8 | 38414611 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.280 | 8 | 38414875 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 8 | 38414887 | missense variant | G/A;C | snv | 3.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.280 | 8 | 38417968 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 8 | 38414872 | missense variant | A/C;G | snv | 8.0E-06 | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.925 | 0.320 | 8 | 38417962 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.520 | 8 | 38419720 | missense variant | G/A | snv | 0.700 | 0 |