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 | 0.120 | 19 | 12813438 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.800 | 1.000 | 3 | 2006 | 2010 | |||
|
1 | 1.000 | 0.120 | 19 | 12807328 | missense variant | C/A;G;T | snv | 2.4E-05; 1.2E-05 | 0.800 | 1.000 | 3 | 2006 | 2010 | ||||
|
3 | 1.000 | 0.120 | 19 | 12806782 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2006 | 2010 | |||||
|
2 | 0.925 | 0.120 | 19 | 12810323 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.800 | 1.000 | 3 | 2006 | 2010 | |||
|
1 | 1.000 | 0.120 | 19 | 12813135 | missense variant | C/A | snv | 0.800 | 1.000 | 3 | 2006 | 2010 | |||||
|
1 | 1.000 | 0.120 | 19 | 12807209 | frameshift variant | -/A | delins | 9.9E-05 | 4.5E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 19 | 12806748 | synonymous variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 12806742 | synonymous variant | G/A | snv | 1.7E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 12810324 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 12813149 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 12807212 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 12813158 | frameshift variant | -/GC | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 12813164 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 |