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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 5 | 132864365 | missense variant | C/A | snv | 1.8E-03 | 5.3E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 14 | 55440454 | missense variant | C/A;G;T | snv | 4.0E-06; 0.63; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 22129830 | synonymous variant | C/A;T | snv | 1.2E-05; 3.2E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 96435158 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 5 | 132862595 | intron variant | C/G | snv | 0.83 | 0.89 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | X | 50910775 | 5 prime UTR variant | C/G | snv | 0.16 | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 2 | 70785602 | missense variant | C/G | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.030 | 1.000 | 3 | 1998 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 49068234 | missense variant | C/G;T | snv | 5.5E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 2251138 | missense variant | C/G;T | snv | 1.1E-03; 7.5E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 7 | 144399847 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.040 | 1.000 | 4 | 1998 | 2019 | |||
|
2 | 0.925 | 0.080 | X | 50916280 | synonymous variant | C/T | snv | 5.8E-02 | 0.14 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
3 | 0.882 | 0.080 | 5 | 132862408 | synonymous variant | C/T | snv | 0.14 | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 5 | 132862308 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.240 | 3 | 138946163 | missense variant | C/T | snv | 4.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | X | 119243222 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 2 | 49154446 | 5 prime UTR variant | C/T | snv | 0.32 | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
15 | 0.742 | 0.320 | 12 | 130876696 | 3 prime UTR variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 9 | 124500191 | missense variant | C/T | snv | 3.3E-05 | 2.8E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.080 | 11 | 64778294 | synonymous variant | C/T | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.320 | 14 | 45189123 | stop gained | C/T | snv | 1.2E-03 | 1.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 |