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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.200 | 7 | 5982885 | missense variant | C/T | snv | 4.0E-05 | 2.8E-05 | 0.700 | 1.000 | 12 | 2006 | 2016 | |||
|
5 | 0.882 | 0.200 | 7 | 5977629 | stop gained | G/A;T | snv | 2.7E-05 | 0.700 | 1.000 | 11 | 1986 | 2017 | ||||
|
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 | ||||
|
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 | ||||
|
5 | 0.882 | 0.200 | 7 | 6002590 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 10 | 1995 | 2016 | |||
|
9 | 0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 | 0.700 | 1.000 | 9 | 2005 | 2015 | |||
|
2 | 7 | 5977587 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 8 | 2009 | 2016 | |||||||
|
4 | 0.925 | 0.160 | 7 | 5982823 | splice donor variant | C/A;G;T | snv | 4.1E-06; 1.6E-05 | 0.700 | 1.000 | 7 | 2008 | 2016 | ||||
|
10 | 0.851 | 0.200 | 7 | 6009019 | start lost | T/A;C;G | snv | 4.0E-06; 2.8E-05 | 0.700 | 1.000 | 7 | 2008 | 2016 | ||||
|
4 | 0.925 | 0.160 | 7 | 5995534 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 6 | 2008 | 2016 | ||||
|
4 | 0.925 | 0.160 | 7 | 5982881 | frameshift variant | T/- | delins | 0.700 | 1.000 | 6 | 2013 | 2016 | |||||
|
7 | 0.827 | 0.160 | 7 | 5986883 | stop gained | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 6 | 2006 | 2016 | ||||
|
9 | 0.790 | 0.280 | 7 | 5992018 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 2010 | 2016 | |||
|
4 | 0.925 | 0.160 | 7 | 5995573 | frameshift variant | CTGTCTGT/-;CTGT | delins | 0.700 | 1.000 | 5 | 2008 | 2017 | |||||
|
3 | 1.000 | 0.160 | 7 | 5999116 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2009 | 2016 | ||||
|
3 | 1.000 | 0.160 | 7 | 5989957 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 5 | 2011 | 2016 | |||||
|
2 | 7 | 5989956 | splice acceptor variant | C/A | snv | 4.1E-06 | 0.700 | 1.000 | 5 | 2009 | 2014 | ||||||
|
3 | 1.000 | 0.160 | 7 | 5973487 | frameshift variant | AT/C | delins | 0.700 | 1.000 | 5 | 1999 | 2016 | |||||
|
5 | 1.000 | 0.160 | 7 | 6003718 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 5 | 2010 | 2015 | |||||
|
7 | 0.882 | 0.280 | 7 | 5986838 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2016 | |||
|
4 | 0.925 | 0.200 | 7 | 5995612 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2011 | 2017 | ||||
|
4 | 0.925 | 0.160 | 7 | 5986826 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2016 | ||||
|
3 | 1.000 | 0.160 | 7 | 5997364 | stop gained | G/A;T | snv | 3.6E-05 | 0.700 | 1.000 | 4 | 2013 | 2016 | ||||
|
7 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 0.700 | 1.000 | 4 | 2008 | 2015 | ||||
|
3 | 1.000 | 7 | 5997376 | frameshift variant | GGAGTCAC/- | delins | 0.700 | 1.000 | 4 | 2010 | 2016 |