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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.080 | 7 | 6005996 | missense variant | C/A;G;T | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
19 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.080 | 4 | 110618669 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 11 | 6319476 | missense variant | A/G | snv | 4.2E-06; 0.55 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.851 | 0.080 | 9 | 77794572 | missense variant | TG/AA | mnv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
15 | 0.742 | 0.240 | 3 | 138946321 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.080 | 8 | 143813896 | missense variant | T/C;G | snv | 6.1E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 3 | 9756791 | missense variant | G/A;T | snv | 3.9E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |