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 | 0.080 | X | 139530846 | missense variant | T/C | snv | 0.800 | 1.000 | 22 | 1983 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 139548387 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1983 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 139561638 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1983 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 139537049 | missense variant | G/A;T | snv | 0.700 | 1.000 | 20 | 1983 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 139562031 | missense variant | G/A | snv | 8.2E-05 | 6.6E-05 | 0.700 | 1.000 | 20 | 1983 | 2015 | |||
|
1 | 1.000 | 0.080 | X | 139537139 | missense variant | A/T | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 0.925 | 0.080 | X | 139537145 | missense variant | G/A | snv | 5.5E-06 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 139537158 | missense variant | A/C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139541076 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139541085 | splice acceptor variant | A/C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 0.925 | 0.080 | X | 139541114 | missense variant | G/A | snv | 1.1E-05 | 3.8E-05 | 0.800 | 1.000 | 2 | 1989 | 2013 | |||
|
1 | 1.000 | 0.080 | X | 139551112 | missense variant | C/A;T | snv | 5.5E-06 | 0.810 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 0.925 | 0.080 | X | 139551113 | missense variant | G/A | snv | 5.5E-06 | 9.5E-06 | 0.800 | 1.000 | 2 | 2012 | 2013 | |||
|
1 | 1.000 | 0.080 | X | 139551217 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139551223 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139560821 | missense variant | T/G | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 0.882 | 0.080 | X | 139561566 | missense variant | G/A | snv | 0.810 | 1.000 | 2 | 1989 | 2018 | |||||
|
1 | 1.000 | 0.080 | X | 139561602 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139561820 | stop gained | C/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 0.925 | 0.080 | X | 139561821 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139561925 | missense variant | C/A;T | snv | 5.5E-06 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 139561992 | missense variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139562009 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139562013 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139562042 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 |