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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 0.720 | 1.000 | 6 | 2005 | 2010 | |||||
|
2 | 0.925 | 0.080 | 1 | 156135956 | missense variant | G/A;C | snv | 1.2E-05 | 0.710 | 1.000 | 8 | 2007 | 2018 | ||||
|
4 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 0.710 | 1.000 | 5 | 1999 | 2007 | |||||
|
4 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.710 | 1.000 | 5 | 2001 | 2020 | ||||
|
3 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 14 | 2000 | 2014 | ||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 2006 | 2014 | |||||
|
2 | 0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv | 0.700 | 1.000 | 6 | 2003 | 2014 | |||||
|
3 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2013 | |||||
|
3 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 0.700 | 1.000 | 4 | 2007 | 2012 | ||||
|
4 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 0.700 | 1.000 | 4 | 1996 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 0.700 | 1.000 | 4 | 1999 | 2008 | |||||
|
3 | 0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2003 | 2009 | |||||
|
3 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2003 | 2010 | |||||
|
3 | 1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv | 0.700 | 1.000 | 4 | 2007 | 2017 | |||||
|
3 | 0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv | 0.700 | 1.000 | 3 | 2002 | 2009 | |||||
|
1 | 1 | 156134943 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 3 | 2000 | 2001 | |||||||
|
1 | 1 | 156137653 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2008 | 2016 | |||||||
|
1 | 1 | 156134964 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2003 | 2008 | |||||||
|
1 | 0.925 | 0.120 | 1 | 156130745 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2000 | 2008 | |||||
|
2 | 1.000 | 0.080 | 1 | 156136350 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||
|
1 | 1 | 156135922 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2000 | 2012 | |||||||
|
1 | 1 | 156136049 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2006 | 2011 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156130708 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2000 | 2011 | |||||
|
2 | 1.000 | 0.120 | 1 | 156114934 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2000 |