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 | 0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 | 0.820 | 1.000 | 3 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 60073967 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2009 | 2011 | |||||
|
4 | 1.000 | 0.080 | 5 | 132387596 | intron variant | T/C | snv | 0.46 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
2 | 1.000 | 0.080 | 2 | 102369762 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.080 | 15 | 67154447 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 0.925 | 0.080 | 17 | 39936460 | intron variant | T/C | snv | 0.45 | 0.710 | 1.000 | 3 | 2010 | 2012 | ||||
|
3 | 0.925 | 0.080 | 17 | 39766006 | synonymous variant | G/A | snv | 0.41 | 0.36 | 0.810 | 1.000 | 3 | 2010 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 39908152 | intron variant | C/T | snv | 0.40 | 0.35 | 0.820 | 1.000 | 2 | 2011 | 2018 | |||
|
1 | 1.000 | 0.080 | 8 | 27462388 | intron variant | C/T | snv | 4.0E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102338622 | intron variant | G/A | snv | 0.18 | 0.810 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39709752 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39661229 | non coding transcript exon variant | T/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 5 | 60088059 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
2 | 0.925 | 0.080 | 17 | 39938921 | intron variant | G/A;C | snv | 0.810 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.080 | 5 | 60149310 | intron variant | C/T | snv | 0.68 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39955101 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102340888 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102263004 | regulatory region variant | C/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 | 0.710 | 1.000 | 1 | 2010 | 2020 | |||
|
2 | 1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 41801493 | intergenic variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 5 | 111128310 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 8930055 | intergenic variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 50856840 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 202086810 | intergenic variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2000 | 2000 |