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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 3 | 181593779 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.923 | 13 | 1999 | 2019 | |||
|
4 | 0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
10 | 0.807 | 0.200 | 5 | 112828920 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.120 | 5 | 112828890 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.120 | 5 | 112835075 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
11 | 0.763 | 0.320 | 3 | 93905799 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
15 | 0.724 | 0.360 | 11 | 65498698 | non coding transcript exon variant | A/G | snv | 5.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.763 | 0.360 | 11 | 49164722 | missense variant | G/A | snv | 3.7E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 3 | 59495862 | intron variant | A/G | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 148243753 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 9 | 19022472 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.827 | 0.160 | 19 | 5562104 | 3 prime UTR variant | G/A | snv | 0.45 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.160 | 2 | 120989380 | missense variant | G/T | snv | 0.63 | 0.61 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
25 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 0.010 | < 0.001 | 1 | 2019 | 2019 |