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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.030 | 0.667 | 3 | 2005 | 2011 | |||
|
3 | 1.000 | 0.080 | 2 | 236600564 | intergenic variant | G/A | snv | 0.33 | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 51821024 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 2 | 226115660 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 2 | 165633833 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 137322384 | intron variant | G/A | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.080 | 2 | 49957256 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.080 | 2 | 55278320 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 2 | 129236759 | intergenic variant | A/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 2 | 59316241 | intron variant | G/A | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 137469872 | intron variant | G/A | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 2 | 200703710 | intron variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 2 | 129240870 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 2 | 207560294 | synonymous variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 2 | 68047303 | missense variant | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.120 | 2 | 75137019 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 2 | 75186888 | non coding transcript exon variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102178081 | 3 prime UTR variant | C/G;T | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 2 | 44911368 | intergenic variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 2 | 197349672 | intergenic variant | C/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 238276865 | intron variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 2 | 44915534 | intergenic variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 |