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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1997 | 2014 | |||||
|
8 | 0.776 | 0.240 | 10 | 87957858 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1998 | 2017 | |||||
|
18 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2007 | 2017 | |||||
|
10 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.200 | 10 | 87965303 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.200 | 10 | 87864510 | frameshift variant | -/GA | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 10 | 87961051 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||
|
24 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
35 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.360 | 10 | 87931091 | splice donor variant | T/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 10 | 87960957 | frameshift variant | -/GA | delins | 0.700 | 0 | ||||||||
|
13 | 0.742 | 0.360 | 10 | 87933163 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.200 | 10 | 87933163 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 10 | 87960992 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
14 | 0.732 | 0.360 | 10 | 87960952 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 10 | 87933037 | missense variant | A/C;G | snv | 0.800 | 1.000 | 0 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.240 | 10 | 87957973 | missense variant | A/G;T | snv | 0.800 | 1.000 | 0 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.240 | 10 | 87957940 | missense variant | T/C | snv | 0.800 | 1.000 | 0 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.240 | 10 | 87952125 | missense variant | C/A | snv | 0.800 | 1.000 | 0 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.240 | 10 | 87933151 | missense variant | C/G;T | snv | 0.800 | 1.000 | 0 | 2005 | 2015 |