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 | 0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.040 | 7 | 76303007 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
5 | 0.851 | 0.080 | 1 | 161306864 | missense variant | G/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
5 | 0.851 | 0.120 | 1 | 161307308 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.925 | 0.200 | 10 | 3165320 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 19 | 45365131 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 1.000 | 10 | 6061799 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 1.000 | 0.120 | 11 | 92245852 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 13 | 106686453 | intron variant | C/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 2 | 166773339 | regulatory region variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 7 | 30609729 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 1 | 12004835 | missense variant | G/A | snv | 2.1E-03 | 2.5E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 7 | 76302833 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 19 | 49830790 | missense variant | C/T | snv | 3.8E-03 | 4.3E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
5 | 1.000 | 2 | 1434216 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.827 | 0.200 | 1 | 161306821 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.040 | 0.500 | 4 | 2006 | 2013 | |||
|
3 | 1.000 | 0.120 | 2 | 67075611 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 12 | 70560684 | synonymous variant | C/T | snv | 1.4E-02 | 3.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 7 | 93719703 | intron variant | C/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2018 | 2018 |