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 | 0.882 | 0.160 | 14 | 80966202 | intron variant | A/G | snv | 0.40 | 0.770 | 1.000 | 8 | 2009 | 2017 | ||||
|
2 | 0.925 | 0.120 | 14 | 80984708 | intron variant | C/T | snv | 0.37 | 0.040 | 1.000 | 4 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.160 | 5 | 147878599 | intron variant | G/A | snv | 0.21 | 0.030 | 1.000 | 3 | 2009 | 2011 | ||||
|
5 | 0.827 | 0.160 | 2 | 203869764 | intron variant | C/T | snv | 0.41 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.120 | 14 | 80984885 | intron variant | C/T | snv | 0.37 | 0.810 | 1.000 | 2 | 2011 | 2014 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2018 | |||||
|
1 | 1.000 | 0.120 | 14 | 81056784 | intron variant | T/C | snv | 0.13 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | 14 | 80996551 | intron variant | T/C | snv | 0.20 | 0.020 | 0.500 | 2 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.120 | 22 | 37239015 | intron variant | A/G | snv | 0.41 | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.120 | 14 | 80976823 | intron variant | A/G | snv | 0.18 | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 80978023 | intron variant | G/A | snv | 0.27 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 133133268 | intron variant | G/A | snv | 0.49 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.120 | 14 | 81031049 | intron variant | T/C | snv | 0.24 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.280 | 17 | 70330197 | intron variant | T/C | snv | 0.25 | 0.710 | 1.000 | 2 | 2012 | 2019 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
7 | 0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.120 | 14 | 81002610 | intron variant | G/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2019 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
11 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.120 | 14 | 80990350 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 140634077 | intron variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 14 | 80902473 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 203302802 | intron variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 |