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 | 0.200 | 19 | 18599736 | missense variant | A/C;G | snv | 4.4E-06 | 0.800 | 1.000 | 7 | 2003 | 2014 | ||||
|
2 | 0.925 | 0.200 | 19 | 18594338 | missense variant | A/C | snv | 0.700 | 1.000 | 7 | 2003 | 2014 | |||||
|
1 | 1.000 | 0.200 | 19 | 18599720 | missense variant | C/T | snv | 2.6E-05 | 4.9E-05 | 0.700 | 1.000 | 7 | 2003 | 2014 | |||
|
1 | 1.000 | 0.200 | 19 | 18599741 | missense variant | A/G | snv | 3.5E-05 | 0.700 | 1.000 | 7 | 2003 | 2014 | ||||
|
2 | 0.925 | 0.200 | 19 | 18596895 | missense variant | C/A | snv | 0.700 | 1.000 | 7 | 2003 | 2014 | |||||
|
2 | 0.925 | 0.200 | 19 | 18598886 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2003 | 2014 | |||||
|
2 | 0.925 | 0.200 | 19 | 18596711 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.200 | 19 | 18598483 | missense variant | G/A | snv | 1.1E-04 | 3.5E-05 | 0.700 | 1.000 | 7 | 2003 | 2014 | |||
|
1 | 1.000 | 0.200 | 19 | 18596944 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.200 | 19 | 18599621 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.200 | 19 | 18594357 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 18596918 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 19 | 18596901 | frameshift variant | AC/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 19 | 18598767 | splice region variant | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 19 | 18597033 | frameshift variant | -/G | delins | 9.0E-05; 4.1E-06 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 19 | 18596628 | missense variant | G/A;C | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 7 | 23167916 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 7 | 23167919 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 7 | 23165780 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 7 | 23165876 | missense variant | G/A | snv | 0.700 | 0 |