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 | 19 | 17337619 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 19 | 17338667 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 19 | 17339005 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 19 | 17339589 | missense variant | G/C;T | snv | 1.2E-04; 4.3E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 19 | 17338626 | missense variant | A/T | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 19 | 17341181 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 19 | 17338590 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 19 | 17341512 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 19 | 17337643 | frameshift variant | AA/GTG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 19 | 17339123 | missense variant | C/A;G | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
1 | 1.000 | 19 | 17341599 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2014 | 2016 | ||||||
|
1 | 1.000 | 19 | 17341078 | missense variant | G/C | snv | 0.800 | 1.000 | 2 | 2014 | 2016 |