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 | 3 | 128906220 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 2007 | 2016 | |||||
|
1 | 1.000 | 3 | 128879821 | missense variant | T/A | snv | 0.800 | 1.000 | 8 | 2007 | 2016 | ||||||
|
1 | 1.000 | 3 | 128899450 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 2007 | 2016 | ||||
|
1 | 1.000 | 3 | 128904079 | missense variant | G/A;C | snv | 1.8E-02; 5.2E-05 | 0.800 | 0 | ||||||||
|
1 | 1.000 | 3 | 128910051 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 0 | ||||||||
|
1 | 1.000 | 3 | 128909019 | missense variant | C/T | snv | 4.0E-04 | 4.1E-04 | 0.700 | 1.000 | 8 | 2007 | 2016 | ||||
|
1 | 1.000 | 3 | 128906121 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2007 | 2016 | |||||
|
1 | 1.000 | 3 | 128906211 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 8 | 2007 | 2016 | |||||
|
1 | 1.000 | 3 | 128909411 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 2007 | 2016 | ||||
|
1 | 1.000 | 3 | 128895321 | frameshift variant | T/- | delins | 0.700 | 1.000 | 5 | 2014 | 2018 | ||||||
|
1 | 1.000 | 3 | 128910144 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 128902577 | missense variant | G/A;T | snv | 4.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 128906208 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 128897654 | missense variant | C/T | snv | 6.0E-05 | 9.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 128896491 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |