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 | 4 | 148114132 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2000 | 2007 | |||||
|
2 | 0.925 | 0.120 | 4 | 148154589 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 2000 | 2007 | |||||
|
1 | 1.000 | 0.120 | 4 | 148259978 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2000 | 2007 | |||||
|
1 | 1.000 | 0.120 | 4 | 148081363 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2000 | 2007 | |||||
|
1 | 1.000 | 0.120 | 4 | 148152526 | stop gained | G/A;T | snv | 0.800 | 1.000 | 4 | 2000 | 2007 | |||||
|
1 | 1.000 | 0.120 | 4 | 148081384 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 2000 | 2007 | |||||
|
1 | 1.000 | 0.120 | 4 | 148081460 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 4 | 148114148 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||
|
2 | 0.925 | 0.160 | 4 | 148435252 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 148194825 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148436373 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148435553 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148154899 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148154892 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 224557750 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148435729 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148081427 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148114246 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148154548 | splice region variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 148154820 | frameshift variant | G/-;GGGGGGGGGG | delins | 0.700 | 0 |