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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 1.000 | 3 | 2008 | 2018 | |||
|
1 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.900 | 0.957 | 2 | 2009 | 2020 | ||||
|
1 | 1.000 | 0.040 | 5 | 96793809 | synonymous variant | A/G;T | snv | 0.72; 1.2E-05 | 0.890 | 1.000 | 1 | 2009 | 2018 | ||||
|
5 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.870 | 1.000 | 2 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 80028675 | intron variant | C/G;T | snv | 0.820 | 1.000 | 1 | 2010 | 2016 | |||||
|
2 | 0.925 | 0.120 | 17 | 47691470 | upstream gene variant | T/C | snv | 0.54 | 0.820 | 1.000 | 1 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 40490688 | intron variant | G/A | snv | 0.56 | 0.810 | 1.000 | 1 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 45381125 | intron variant | A/G | snv | 7.9E-02 | 0.810 | 1.000 | 1 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 21 | 39093252 | intergenic variant | G/A | snv | 0.46 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 2 | 102047167 | intron variant | T/C;G | snv | 0.810 | 1.000 | 1 | 2010 | 2016 | |||||
|
1 | 0.925 | 0.040 | 6 | 31398010 | upstream gene variant | G/A | snv | 3.1E-02 | 0.810 | 1.000 | 1 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 80025321 | intron variant | T/A | snv | 0.59 | 0.810 | 1.000 | 1 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 83877774 | upstream gene variant | C/T | snv | 0.75 | 0.810 | 1.000 | 1 | 2011 | 2013 | ||||
|
5 | 0.827 | 0.120 | 12 | 6393576 | upstream gene variant | G/A | snv | 0.30 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 136374886 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 1 | 24970693 | non coding transcript exon variant | G/A | snv | 0.44 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 109277761 | intron variant | G/A | snv | 0.61 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 0.925 | 0.080 | 1 | 200991179 | intron variant | G/A | snv | 0.27 | 0.27 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 21 | 39097594 | intergenic variant | A/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 5 | 159391737 | intron variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 31368323 | intron variant | C/A | snv | 0.31 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.760 | 0.571 | 1 | 2005 | 2018 | ||||
|
1 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.750 | 1.000 | 1 | 2010 | 2019 | ||||
|
5 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.730 | 0.750 | 1 | 2002 | 2016 | ||||
|
3 | 0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 | 0.730 | 1.000 | 1 | 2013 | 2018 |