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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.120 | 19 | 55154146 | missense variant | G/A;C | snv | 4.0E-06 | 0.740 | 1.000 | 30 | 1997 | 2016 | ||||
|
5 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 13 | 2003 | 2013 | |||||
|
5 | 0.851 | 0.120 | 19 | 55151910 | missense variant | C/T | snv | 7.0E-06 | 0.710 | 0.909 | 11 | 2003 | 2017 | ||||
|
5 | 0.827 | 0.120 | 19 | 55154070 | missense variant | C/T | snv | 0.710 | 1.000 | 3 | 2007 | 2016 | |||||
|
8 | 0.790 | 0.120 | 19 | 55154094 | missense variant | C/A;G;T | snv | 4.0E-05 | 0.700 | 1.000 | 22 | 1997 | 2017 | ||||
|
5 | 0.851 | 0.120 | 19 | 55154157 | missense variant | C/T | snv | 4.2E-05 | 0.700 | 1.000 | 11 | 2003 | 2014 | ||||
|
4 | 0.851 | 0.120 | 19 | 55154095 | missense variant | G/A | snv | 4.0E-05 | 7.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2014 | |||
|
2 | 0.925 | 0.040 | 19 | 55151856 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2010 | ||||
|
4 | 0.882 | 0.080 | 19 | 55151881 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2016 | ||||
|
6 | 0.807 | 0.080 | 19 | 55154145 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 1988 | 2004 | ||||
|
3 | 0.882 | 0.080 | 19 | 55154109 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2003 | 2009 | |||||
|
2 | 0.925 | 0.080 | 19 | 55154045 | inframe deletion | TTC/- | delins | 0.700 | 1.000 | 2 | 2003 | 2008 | |||||
|
1 | 1.000 | 0.040 | 19 | 55151899 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.040 | 19 | 55151865 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 19 | 55154148 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 55157309 | splice acceptor variant | C/A | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 19 | 55157589 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.080 | 19 | 55154071 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 55151857 | missense variant | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.040 | 19 | 55157097 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.040 | 19 | 55156239 | missense variant | G/A | snv | 1.4E-03 | 6.8E-03 | 0.030 | 1.000 | 3 | 2008 | 2016 | |||
|
3 | 0.882 | 0.080 | 19 | 55151851 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.040 | 19 | 55154043 | frameshift variant | T/- | del | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.040 | 19 | 55151850 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |