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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 3 | 194865359 | intergenic variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 65772696 | regulatory region variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 2 | 133680388 | intergenic variant | C/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 10 | 118836909 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.080 | 0.875 | 8 | 2009 | 2017 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.050 | 1.000 | 5 | 2007 | 2017 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
2 | 0.925 | 0.040 | 7 | 87540386 | intron variant | A/C | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 16 | 16102659 | missense variant | G/T | snv | 9.4E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 16 | 15995584 | intron variant | A/G | snv | 7.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 16 | 16090375 | intron variant | C/G | snv | 0.81 | 0.83 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 10 | 99781296 | upstream gene variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
20 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 10 | 99832187 | intron variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.763 | 0.240 | 10 | 99782821 | 5 prime UTR variant | C/T | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.120 | 13 | 95061461 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.030 | 1.000 | 3 | 2008 | 2019 | ||||
|
2 | 0.925 | 0.040 | 10 | 74176853 | 5 prime UTR variant | C/G;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.240 | 14 | 20456045 | missense variant | A/G | snv | 7.4E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 2 | 201246236 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.030 | 1.000 | 3 | 2012 | 2019 |