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 | 4 | 55599178 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2009 | |||
|
1 | 1.000 | 0.080 | 4 | 55627872 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 43953041 | 3 prime UTR variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 74504631 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 28526550 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 55627773 | intron variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 1103466 | upstream gene variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 46408231 | intron variant | C/T | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 4 | 55632082 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 5 | 96416081 | missense variant | T/C | snv | 3.9E-02 | 3.2E-02 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
2 | 1.000 | 0.080 | 3 | 52506757 | synonymous variant | T/C | snv | 0.53 | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 6 | 110873500 | upstream gene variant | C/A;G | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 20 | 56248973 | missense variant | G/A | snv | 0.14 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 18 | 60371454 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.120 | 19 | 1101993 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 95319437 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 45162620 | intergenic variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 12 | 53334171 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.200 | 20 | 56248749 | 5 prime UTR variant | C/A | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.080 | 7 | 106283804 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 6 | 28515705 | missense variant | A/C | snv | 0.38 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.120 | 7 | 106285307 | intron variant | C/A;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 0.080 | 3 | 52825614 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.120 | 7 | 151009827 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |