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 | 0.730 | 1.000 | 17 | 1997 | 2017 | ||||
|
4 | 0.851 | 0.120 | 19 | 55154095 | missense variant | G/A | snv | 4.0E-05 | 7.0E-06 | 0.720 | 1.000 | 15 | 1997 | 2017 | |||
|
8 | 0.790 | 0.120 | 19 | 55154094 | missense variant | C/A;G;T | snv | 4.0E-05 | 0.700 | 1.000 | 17 | 1997 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 55154109 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2003 | 2017 | |||||
|
5 | 0.851 | 0.120 | 19 | 55154157 | missense variant | C/T | snv | 4.2E-05 | 0.700 | 1.000 | 11 | 2003 | 2017 | ||||
|
5 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 10 | 2003 | 2015 | |||||
|
6 | 0.807 | 0.080 | 19 | 55154145 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 1.000 | 8 | 1997 | 2014 | ||||
|
4 | 0.882 | 0.080 | 19 | 55151881 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2017 | ||||
|
5 | 0.851 | 0.120 | 19 | 55151910 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 55151875 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 55154045 | inframe deletion | TTC/- | delins | 0.700 | 1.000 | 4 | 2003 | 2017 | |||||
|
6 | 0.807 | 0.080 | 19 | 55154071 | missense variant | G/A;C | snv | 0.700 | 1.000 | 4 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.080 | 19 | 55154743 | missense variant | C/G | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 55154082 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2017 | |||
|
5 | 0.827 | 0.120 | 19 | 55154070 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
2 | 1.000 | 0.080 | 19 | 55154172 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 55154175 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 19 | 55154053 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 19 | 55151851 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2001 | 2003 | |||||
|
3 | 0.882 | 0.120 | 19 | 55151860 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2002 | 2003 |