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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.020 | 1.000 | 2 | 2008 | 2013 | |||
|
3 | 0.882 | 0.160 | 1 | 7819003 | intron variant | C/T | snv | 0.23 | 0.810 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 1.000 | 0.040 | 1 | 155260340 | synonymous variant | C/T | snv | 0.700 | 1.000 | 2 | 2010 | 2017 | |||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
6 | 0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 160887174 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
5 | 0.827 | 0.120 | 1 | 172875212 | intron variant | T/G | snv | 0.34 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 172884320 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
4 | 0.851 | 0.200 | 1 | 172893094 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 2 | 2008 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 172893799 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.160 | 1 | 247459055 | upstream gene variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 1 | 186906327 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 1 | 161502999 | upstream gene variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 191590226 | intergenic variant | A/T | snv | 0.82 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 67059360 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 1 | 67124778 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 67135449 | intron variant | G/T | snv | 0.28 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.080 | 1 | 67157615 | intron variant | G/A;T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 160909123 | intergenic variant | C/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.120 | 1 | 113943285 | intron variant | T/C | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |