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 | 154860537 | frameshift variant | CT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154860538 | missense variant | T/C | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154860563 | missense variant | T/C | snv | 2.0E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | X | 154860580 | missense variant | A/G;T | snv | 0.700 | 1.000 | 20 | 1989 | 2002 | |||||
|
2 | 0.925 | 0.080 | X | 154860588 | missense variant | C/A | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154861742 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | X | 154861758 | missense variant | C/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154861759 | stop gained | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 0.925 | 0.080 | X | 154861783 | missense variant | C/G | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1989 | 2002 | ||||
|
1 | 1.000 | 0.080 | X | 154861810 | missense variant | C/G | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154861866 | missense variant | C/A | snv | 1.1E-05 | 0.700 | 1.000 | 20 | 1989 | 2002 | ||||
|
1 | 1.000 | 0.080 | X | 154863103 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154863109 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154863112 | missense variant | C/A;T | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154863113 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 | 0.800 | 1.000 | 22 | 1989 | 2013 | |||
|
2 | 0.925 | 0.080 | X | 154863124 | missense variant | C/A;T | snv | 5.5E-06 | 0.800 | 1.000 | 22 | 1989 | 2013 | ||||
|
2 | 0.925 | 0.080 | X | 154863125 | missense variant | G/A | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154863139 | missense variant | G/A;C | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154863142 | missense variant | G/T | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
2 | 0.925 | 0.080 | X | 154863151 | missense variant | C/T | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154863152 | missense variant | G/A | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1989 | 2002 | ||||
|
1 | 1.000 | 0.080 | X | 154863161 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154863172 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1989 | 2002 | |||||
|
1 | 1.000 | 0.080 | X | 154863192 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154863214 | missense variant | T/C | snv | 0.700 | 0 |