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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.080 | 8 | 74362940 | stop gained | C/G | snv | 4.0E-06 | 2.1E-05 | 0.020 | 1.000 | 2 | 2003 | 2011 | |||
|
8 | 0.790 | 0.080 | 8 | 74361886 | stop gained | C/T | snv | 7.6E-05 | 1.5E-04 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
5 | 0.851 | 0.080 | 8 | 74360184 | missense variant | C/T | snv | 7.0E-06 | 0.720 | 1.000 | 2 | 2010 | 2015 | ||||
|
3 | 0.882 | 0.080 | 8 | 74364057 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
9 | 0.790 | 0.120 | 8 | 74364005 | missense variant | C/T | snv | 3.2E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 8 | 74361935 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 8 | 74363011 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.080 | 8 | 74364270 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.080 | 8 | 74360194 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 8 | 74364305 | frameshift variant | -/T | delins | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 8 | 74361900 | frameshift variant | A/- | del | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 |