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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2018 | |||
|
5 | 0.827 | 0.120 | 1 | 36859876 | missense variant | A/C;G | snv | 0.27; 9.2E-05 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
6 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 175157287 | 3 prime UTR variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 66609892 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 178548873 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 36356711 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 5734948 | intergenic variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 174207785 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 1 | 38927359 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 1 | 175166468 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 1.000 | 0.080 | 1 | 31411078 | intron variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.160 | 1 | 35902179 | intron variant | A/G | snv | 0.30 | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.080 | 1 | 10634850 | upstream gene variant | C/T | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 174668799 | intron variant | A/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 175155900 | downstream gene variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 1 | 175150943 | downstream gene variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.080 | 1 | 216600151 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.010 | 1.000 | 1 | 2007 | 2007 |