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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 7 | 106269615 | intron variant | A/T | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 10 | 6234611 | 3 prime UTR variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 18 | 60372165 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.080 | 19 | 45698622 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 18 | 60371970 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 6 | 131807424 | upstream gene variant | C/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 2 | 25161455 | missense variant | A/G | snv | 1.8E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 0.851 | 0.080 | 2 | 233764663 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 19 | 45698838 | missense variant | A/G | snv | 1.0E-03 | 2.2E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 11 | 66127695 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 20 | 37777265 | intron variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 8 | 11792966 | upstream gene variant | T/C | snv | 0.35 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 18 | 60371868 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 96423317 | missense variant | T/C | snv | 4.5E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 6 | 100390522 | missense variant | T/C | snv | 8.0E-06; 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 18 | 60371880 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 3 | 85912502 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 53971251 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.851 | 0.120 | 3 | 196707811 | stop gained | G/A | snv | 2.1E-05 | 0.020 | 0.500 | 2 | 2017 | 2018 | ||||
|
2 | 0.925 | 0.120 | MT | 15497 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.120 | 1 | 209626885 | missense variant | C/T | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.120 | 12 | 109209475 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 6 | 131819872 | non coding transcript exon variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 0.882 | 0.160 | 4 | 10274843 | intergenic variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 |