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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 19 | 1997 | 2015 | |||||
|
6 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1995 | 2013 | ||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.700 | 1.000 | 15 | 1996 | 2015 | |||||
|
4 | 0.925 | 0.160 | 3 | 37012099 | missense variant | G/A;T | snv | 0.700 | 1.000 | 15 | 1996 | 2010 | |||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 14 | 1995 | 2013 | |||||
|
4 | 0.925 | 0.160 | 2 | 47475130 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 13 | 1993 | 2014 | |||||
|
4 | 0.925 | 0.160 | 3 | 37028858 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 13 | 1991 | 2015 | |||||
|
4 | 0.925 | 0.160 | 3 | 37000977 | missense variant | G/A;C | snv | 0.700 | 1.000 | 12 | 1997 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 47416351 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2003 | 2017 | |||||
|
5 | 0.882 | 0.200 | 7 | 5977629 | stop gained | G/A;T | snv | 2.7E-05 | 0.700 | 1.000 | 11 | 1986 | 2017 | ||||
|
3 | 0.925 | 0.160 | 3 | 37042321 | missense variant | T/C | snv | 0.700 | 1.000 | 11 | 1995 | 2013 | |||||
|
3 | 0.925 | 0.160 | 3 | 37048609 | missense variant | G/A;T | snv | 0.700 | 1.000 | 11 | 1999 | 2016 | |||||
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.700 | 1.000 | 10 | 2005 | 2016 | ||||
|
2 | 1.000 | 0.160 | 3 | 37011818 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
4 | 1.000 | 0.160 | 3 | 37050576 | stop gained | A/C;G;T | snv | 0.700 | 1.000 | 10 | 1996 | 2016 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 10 | 2005 | 2016 | ||||
|
5 | 0.882 | 0.200 | 7 | 6009018 | start lost | A/C;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 10 | 2001 | 2016 | ||||
|
4 | 0.925 | 0.160 | 2 | 47475051 | inframe deletion | AAT/- | del | 4.0E-06 | 0.700 | 1.000 | 10 | 1994 | 2012 | ||||
|
4 | 0.925 | 0.160 | 2 | 47471007 | frameshift variant | GA/-;GAGA | delins | 0.700 | 1.000 | 10 | 2002 | 2013 | |||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 10 | 2002 | 2014 | ||||
|
7 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 2001 | 2010 | ||||
|
4 | 0.925 | 0.160 | 3 | 37042331 | splice region variant | G/A;C;T | snv | 0.700 | 1.000 | 10 | 2003 | 2015 | |||||
|
4 | 0.925 | 0.160 | 2 | 47414421 | splice region variant | A/G;T | snv | 3.3E-05 | 0.700 | 1.000 | 9 | 1994 | 2014 | ||||
|
6 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 0.700 | 1.000 | 9 | 2001 | 2012 | |||||
|
6 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 0.700 | 1.000 | 9 | 2004 | 2017 |