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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.040 | 2 | 169018071 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 2 | 43873860 | missense variant | A/C;G | snv | 8.0E-06; 3.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
29 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 20 | 58840698 | missense variant | G/A | snv | 8.9E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
16 | 0.716 | 0.400 | 8 | 58500365 | upstream gene variant | G/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 12 | 21295063 | non coding transcript exon variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | 13 | 103049340 | missense variant | G/A;T | snv | 1.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 2 | 43877786 | missense variant | T/A;C;G | snv | 0.84; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.763 | 0.080 | 8 | 23202743 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
17 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
20 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 2 | 43852775 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 |