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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.708 | 0.200 | 5 | 136046406 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.100 | 0.917 | 12 | 1999 | 2017 | ||||
|
5 | 0.827 | 0.200 | 5 | 136060907 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2003 | 2017 | |||||
|
5 | 0.827 | 0.160 | 5 | 136056754 | missense variant | C/A | snv | 0.040 | 1.000 | 4 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.160 | 5 | 136056697 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2001 | 2010 | |||||
|
15 | 0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 | 0.030 | 1.000 | 3 | 2000 | 2016 | ||||
|
5 | 0.807 | 0.160 | 5 | 136055770 | missense variant | C/A;G;T | snv | 3.2E-04; 3.2E-05; 3.6E-05 | 0.030 | 0.667 | 3 | 2000 | 2013 | ||||
|
9 | 0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
2 | 0.925 | 0.160 | 5 | 136046453 | synonymous variant | C/T | snv | 2.4E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
13 | 0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.790 | 0.200 | 5 | 136060898 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.200 | 5 | 136055795 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 5 | 136055773 | missense variant | A/G;T | snv | 1.9E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 5 | 136060900 | missense variant | G/A | snv | 2.4E-04 | 8.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.160 | 5 | 136056769 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |