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 | X | 50916009 | missense variant | T/C | snv | 2.0E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
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 | ||||
|
2 | 0.925 | 0.080 | 6 | 139373341 | missense variant | G/T | snv | 1.6E-04 | 5.2E-04 | 0.010 | 1.000 | 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 | |||
|
2 | 0.925 | 0.080 | X | 119243160 | missense variant | A/G | snv | 1.1E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
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 | ||||
|
2 | 0.925 | 0.080 | 5 | 96434194 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 6 | 152007481 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 9 | 133635081 | upstream gene variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 7 | 144399832 | missense variant | C/T | snv | 3.4E-04 | 2.9E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
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 | ||||
|
2 | 0.925 | 0.080 | 1 | 183125412 | missense variant | T/C | snv | 0.58 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.160 | 8 | 132971813 | missense variant | C/T | snv | 0.31 | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 22 | 38538601 | missense variant | T/C | snv | 8.6E-03 | 3.5E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 1 | 91698089 | missense variant | G/A | snv | 6.7E-03 | 6.9E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.080 | 6 | 43524840 | synonymous variant | G/A | snv | 0.30 | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 |