| 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 | 20 | 46043294 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 20 | 46045891 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 20 | 46041337 | missense variant | T/A | snv | 0.800 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 20 | 46041441 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46041427 | stop gained | G/A;C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46040466 | frameshift variant | TG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46041453 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46057528 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46035536 | splice donor variant | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46037345 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46043213 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46051731 | inframe deletion | TCC/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 46043638 | missense variant | A/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 20 | 46053600 | missense variant | G/A;T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 |