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 | 0.080 | 11 | 17387124 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 11 | 17387248 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.900 | 0.906 | 64 | 1998 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 17387813 | synonymous variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
6 | 0.827 | 0.080 | 11 | 17387968 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
7 | 0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 | 0.860 | 0.941 | 17 | 2007 | 2018 | |||
|
1 | 1.000 | 0.080 | 11 | 17390274 | upstream gene variant | C/T | snv | 0.72 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 17386704 | 3 prime UTR variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 17387517 | missense variant | C/A;T | snv | 4.0E-06; 8.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 17388012 | missense variant | C/T | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 17387284 | missense variant | G/C;T | snv | 4.0E-02; 2.8E-05 | 0.020 | 0.500 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 17386938 | missense variant | G/A;C | snv | 4.0E-06; 4.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 17387522 | synonymous variant | G/A;T | snv | 0.26; 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 17386478 | 3 prime UTR variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 |