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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.790 | 0.320 | 8 | 60801598 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 8 | 60828682 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 60850486 | splice region variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 60850476 | intron variant | G/A | snv | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
2 | 0.925 | 0.080 | 8 | 60822627 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 60856161 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 60822027 | stop gained | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 8 | 60852882 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 60823843 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 8 | 60849151 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 8 | 60741596 | missense variant | A/G | snv | 8.0E-06 | 0.800 | 1.000 | 0 | 2008 | 2014 | |||||
|
1 | 1.000 | 8 | 60816506 | splice region variant | G/A | snv | 1.4E-05 | 7.7E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 8 | 60821823 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 8 | 60865395 | frameshift variant | CT/- | delins | 0.700 | 0 |