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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.900 | 0.967 | 8 | 2007 | 2017 | ||||
|
39 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.900 | 0.972 | 6 | 2004 | 2019 | |||
|
1 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.900 | 1.000 | 4 | 2009 | 2019 | |||
|
2 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.900 | 0.867 | 4 | 2008 | 2019 | ||||
|
2 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.890 | 1.000 | 4 | 2008 | 2019 | ||||
|
2 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.880 | 1.000 | 4 | 2009 | 2019 | |||||
|
2 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.880 | 1.000 | 2 | 2008 | 2019 | ||||
|
7 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.870 | 1.000 | 6 | 2009 | 2019 | ||||
|
1 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.850 | 1.000 | 2 | 2008 | 2017 | |||
|
2 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.850 | 1.000 | 2 | 2008 | 2017 | ||||
|
3 | 0.776 | 0.240 | 5 | 160452971 | intron variant | T/C | snv | 0.44 | 0.840 | 1.000 | 3 | 2008 | 2017 | ||||
|
9 | 0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 | 0.840 | 1.000 | 2 | 2009 | 2019 | ||||
|
10 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.830 | 1.000 | 4 | 2008 | 2016 | ||||
|
2 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.830 | 1.000 | 3 | 2009 | 2017 | |||||
|
5 | 0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 | 0.830 | 1.000 | 3 | 2009 | 2017 | ||||
|
2 | 0.882 | 0.120 | 11 | 589564 | intron variant | T/C | snv | 0.64 | 0.830 | 1.000 | 2 | 2008 | 2012 | ||||
|
4 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 0.830 | 1.000 | 1 | 2009 | 2017 | ||||
|
2 | 0.851 | 0.160 | 3 | 58384450 | intron variant | G/T | snv | 0.63 | 0.830 | 1.000 | 1 | 2008 | 2012 | ||||
|
1 | 0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 | 0.820 | 1.000 | 4 | 2008 | 2013 | ||||
|
1 | 0.851 | 0.280 | 11 | 128441164 | intergenic variant | G/A;T | snv | 0.820 | 1.000 | 2 | 2009 | 2015 | |||||
|
3 | 0.882 | 0.200 | 16 | 31357553 | missense variant | T/C | snv | 0.21 | 0.820 | 1.000 | 1 | 2008 | 2011 | ||||
|
1 | 0.925 | 0.120 | 4 | 87037243 | intron variant | G/A | snv | 0.42 | 0.820 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.810 | 1.000 | 4 | 2008 | 2017 | ||||
|
1 | 0.882 | 0.120 | 16 | 31301932 | intron variant | C/T | snv | 0.26 | 0.810 | 1.000 | 4 | 2008 | 2014 | ||||
|
7 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.810 | 1.000 | 3 | 2008 | 2015 |