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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.850 | 1.000 | 6 | 2008 | 2017 | ||||
|
9 | 0.776 | 0.400 | 3 | 48466996 | missense variant | G/A;C | snv | 2.1E-04; 2.7E-04 | 0.730 | 1.000 | 6 | 2007 | 2013 | ||||
|
6 | 0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 | 0.820 | 1.000 | 6 | 2008 | 2013 | ||||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.740 | 1.000 | 6 | 2008 | 2017 | ||||
|
13 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 0.730 | 1.000 | 6 | 2009 | 2018 | ||||
|
9 | 0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 | 0.840 | 1.000 | 6 | 2009 | 2019 | ||||
|
8 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 0.050 | 1.000 | 5 | 2008 | 2013 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.710 | 1.000 | 5 | 2015 | 2018 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 0.800 | 5 | 2009 | 2016 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.810 | 1.000 | 5 | 2008 | 2017 | ||||
|
36 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.050 | 0.400 | 5 | 2012 | 2016 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.050 | 0.800 | 5 | 2011 | 2017 | |||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.800 | 1.000 | 5 | 2009 | 2016 | ||||
|
3 | 0.882 | 0.120 | 11 | 589564 | intron variant | T/C | snv | 0.64 | 0.830 | 1.000 | 5 | 2008 | 2012 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.050 | 0.800 | 5 | 2004 | 2016 | |||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.050 | 0.600 | 5 | 2007 | 2017 | ||||
|
18 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 0.050 | 0.800 | 5 | 2007 | 2017 | |||
|
7 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 0.800 | 1.000 | 5 | 2008 | 2017 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.050 | 1.000 | 5 | 2010 | 2018 | ||||
|
3 | 0.882 | 0.120 | 16 | 31301932 | intron variant | C/T | snv | 0.26 | 0.810 | 1.000 | 5 | 2008 | 2014 | ||||
|
7 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 0.730 | 1.000 | 4 | 2011 | 2016 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.040 | 1.000 | 4 | 2000 | 2009 | |||
|
1 | 1.000 | 0.080 | 16 | 31325567 | missense variant | C/T | snv | 0.16 | 0.16 | 0.730 | 1.000 | 4 | 2009 | 2013 | |||
|
10 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2007 | 2019 | |||||
|
10 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 0.040 | 1.000 | 4 | 2015 | 2019 |