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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 | 0.710 | 0.500 | 2 | 2017 | 2019 | ||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.100 | 0.882 | 17 | 2004 | 2019 | ||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
6 | 0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 | 0.020 | 0.500 | 2 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 201271565 | missense variant | T/A;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 2 | 201287058 | 3 prime UTR variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 201276921 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 2 | 201258305 | missense variant | C/A;G;T | snv | 2.3E-04; 2.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 2 | 201271872 | intron variant | C/T | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 201263895 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |