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 | 0.900 | 0.969 | 26 | 1998 | 2019 | ||||
|
2 | 0.925 | 0.160 | 5 | 136056697 | missense variant | T/G | snv | 0.740 | 1.000 | 4 | 2000 | 2010 | |||||
|
15 | 0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 | 0.040 | 1.000 | 4 | 2000 | 2011 | ||||
|
5 | 0.827 | 0.160 | 5 | 136056754 | missense variant | C/A | snv | 0.740 | 0.923 | 4 | 1998 | 2017 | |||||
|
13 | 0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2015 | ||||
|
5 | 0.807 | 0.160 | 5 | 136055770 | missense variant | C/A;G;T | snv | 3.2E-04; 3.2E-05; 3.6E-05 | 0.020 | 1.000 | 2 | 2000 | 2013 | ||||
|
2 | 0.925 | 0.160 | 5 | 136060900 | missense variant | G/A | snv | 2.4E-04 | 8.4E-04 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
4 | 0.851 | 0.160 | 5 | 136056769 | missense variant | C/A | snv | 0.720 | 0.909 | 2 | 1998 | 2014 | |||||
|
2 | 0.925 | 0.160 | 20 | 38146789 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2017 | ||||
|
5 | 0.827 | 0.200 | 5 | 136060907 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 0.882 | 0.200 | 2 | 215433372 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 5 | 136046453 | synonymous variant | C/T | snv | 2.4E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 |