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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 2 | 25161526 | missense variant | C/A;T | snv | 5.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 0.030 | 1.000 | 3 | 2007 | 2012 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.160 | 3 | 122284403 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 9 | 76707245 | missense variant | C/T | snv | 2.0E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.160 | 11 | 64804546 | missense variant | T/C | snv | 0.94 | 0.90 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
6 | 0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 11 | 64809738 | frameshift variant | GA/- | del | 0.700 | 0 | ||||||||
|
21 | 0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.200 | 22 | 28719423 | frameshift variant | C/- | del | 0.700 | 0 |