| 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 | 0.882 | 0.120 | 7 | 80656687 | missense variant | C/T | snv | 1.1E-03 | 1.0E-04 | 0.800 | 1.000 | 5 | 1993 | 2002 | |||
|
1 | 1.000 | 0.080 | 7 | 80673392 | missense variant | A/C;G | snv | 2.6E-04; 4.0E-06; 9.6E-05 | 7.0E-06 | 0.800 | 1.000 | 2 | 1995 | 2002 | |||
|
1 | 1.000 | 0.080 | 7 | 80669964 | missense variant | T/C;G | snv | 6.0E-05; 3.2E-05 | 0.800 | 1.000 | 2 | 1995 | 2002 | ||||
|
1 | 1.000 | 0.080 | 7 | 80661110 | frameshift variant | CA/- | delins | 1.2E-03 | 2.8E-04 | 0.700 | 1.000 | 6 | 1994 | 2015 | |||
|
1 | 1.000 | 0.080 | 7 | 80673382 | inframe insertion | ATTGTGCCTATT/-;ATTGTGCCTATTGTGCCTATT | delins | 3.2E-04 | 0.700 | 1.000 | 5 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 80672800 | missense variant | C/G;T | snv | 4.0E-06; 5.5E-04 | 0.700 | 1.000 | 3 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 80671102 | frameshift variant | AAAA/-;AAAAA | delins | 0.700 | 1.000 | 2 | 1996 | 2002 | |||||
|
3 | 0.925 | 0.080 | 7 | 80661212 | splice donor variant | T/A;C;G | snv | 4.0E-06; 5.5E-04; 4.0E-06; 1.0E-04 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 7 | 80671133 | stop gained | T/G | snv | 6.2E-03 | 2.6E-02 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
1 | 1.000 | 0.080 | 7 | 80666447 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.160 | 7 | 80656687 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 7 | 80674123 | synonymous variant | A/C | snv | 4.8E-05 | 2.8E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 |