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 | 8 | 42417968 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42436991 | frameshift variant | AC/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.882 | 0.120 | 8 | 42437137 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42437316 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42465904 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42472203 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42472204 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42472370 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42463012 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42417931 | frameshift variant | GGAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42459925 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 8 | 32764088 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 14 | 39320963 | missense variant | C/G | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.120 | 14 | 39320945 | missense variant | C/G;T | snv | 4.7E-03; 6.0E-05 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.080 | 8 | 42437211 | missense variant | G/C | snv | 0.700 | 1.000 | 8 | 2005 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 42428841 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 2005 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 42472309 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 2005 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 42437367 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 8 | 2005 | 2014 | |||
|
1 | 1.000 | 0.080 | 8 | 42472360 | missense variant | T/A;G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 2005 | 2014 | |||
|
2 | 0.925 | 0.080 | 8 | 42417960 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 2005 | 2014 | ||||
|
7 | 0.882 | 0.120 | 8 | 42428829 | stop gained | C/A;T | snv | 0.800 | 1.000 | 8 | 2005 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 42428768 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 2005 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 42459928 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 8 | 2005 | 2014 | |||
|
1 | 1.000 | 0.080 | 8 | 42430070 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 8 | 2005 | 2014 |