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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 6 | 31943161 | intron variant | G/T | snv | 0.12 | 0.100 | 1.000 | 14 | 2007 | 2018 | ||||
|
4 | 0.851 | 0.160 | 6 | 31962685 | intron variant | G/A | snv | 0.14 | 0.16 | 0.870 | 1.000 | 12 | 2010 | 2019 | |||
|
11 | 0.776 | 0.240 | 1 | 196713817 | synonymous variant | G/A;C;T | snv | 0.44 | 0.080 | 1.000 | 8 | 2007 | 2018 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.860 | 1.000 | 8 | 2010 | 2018 | ||||
|
10 | 0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 | 0.860 | 1.000 | 8 | 2006 | 2018 | ||||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.760 | 1.000 | 7 | 2015 | 2018 | |||
|
9 | 0.790 | 0.320 | 6 | 31946247 | missense variant | T/A | snv | 3.9E-02 | 3.4E-02 | 0.070 | 1.000 | 7 | 2009 | 2019 | |||
|
3 | 0.925 | 0.040 | 15 | 58395681 | intron variant | T/C | snv | 0.50 | 0.860 | 1.000 | 7 | 2010 | 2019 | ||||
|
8 | 0.790 | 0.280 | 17 | 1769982 | missense variant | C/T | snv | 0.61 | 0.69 | 0.060 | 1.000 | 6 | 2005 | 2018 | |||
|
9 | 0.807 | 0.160 | 1 | 196733680 | intron variant | C/T | snv | 0.44 | 0.830 | 1.000 | 6 | 2006 | 2019 | ||||
|
6 | 0.807 | 0.040 | 4 | 109764664 | missense variant | C/T | snv | 4.2E-04 | 3.9E-04 | 0.750 | 1.000 | 6 | 2013 | 2019 | |||
|
6 | 0.807 | 0.040 | 6 | 43858890 | TF binding site variant | C/T | snv | 0.61 | 0.840 | 1.000 | 6 | 2013 | 2019 | ||||
|
4 | 0.851 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 5.8E-02 | 0.730 | 1.000 | 6 | 2010 | 2019 | ||||
|
3 | 0.925 | 0.040 | 1 | 186178506 | missense variant | A/G | snv | 7.3E-04 | 6.8E-04 | 0.050 | 1.000 | 5 | 2004 | 2007 | |||
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.800 | 1.000 | 4 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196691131 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 4 | 2011 | 2013 | ||||
|
8 | 0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 0.830 | 1.000 | 4 | 2011 | 2019 | |||||
|
3 | 0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv | 0.040 | 1.000 | 4 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 6 | 31933767 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.040 | 1.000 | 4 | 2006 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 196912470 | intron variant | G/C;T | snv | 0.710 | 1.000 | 4 | 2010 | 2013 | |||||
|
5 | 0.882 | 0.040 | 1 | 196651787 | upstream gene variant | C/T | snv | 0.22 | 0.040 | 1.000 | 4 | 2006 | 2019 | ||||
|
2 | 0.925 | 0.160 | 1 | 196731921 | intron variant | G/A;C;T | snv | 0.810 | 1.000 | 4 | 2005 | 2013 | |||||
|
3 | 0.882 | 0.040 | 6 | 43860845 | intergenic variant | T/C | snv | 0.37 | 0.830 | 1.000 | 4 | 2011 | 2018 | ||||
|
2 | 0.925 | 0.160 | 1 | 196677131 | non coding transcript exon variant | A/G;T | snv | 0.710 | 1.000 | 4 | 2008 | 2013 | |||||
|
10 | 0.763 | 0.160 | 6 | 42721821 | missense variant | G/A;C | snv | 0.040 | 1.000 | 4 | 1995 | 2014 |