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 | 0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
23 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 2 | 10126436 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 3 | 10228274 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.160 | 10 | 102392994 | upstream gene variant | G/A | snv | 0.13 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.882 | 0.160 | 12 | 102396074 | 3 prime UTR variant | C/G | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 10 | 102397954 | intron variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.23 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 102401718 | intron variant | A/C | snv | 2.3E-02 | 2.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.080 | 11 | 102790228 | 3 prime UTR variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
21 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
4 | 0.851 | 0.200 | 13 | 102858296 | missense variant | C/G | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.030 | 1.000 | 3 | 2011 | 2014 | |||
|
3 | 0.882 | 0.240 | 12 | 102894894 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
14 | 0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.070 | 0.857 | 7 | 2011 | 2015 | |||
|
1 | 1.000 | 0.080 | 14 | 103700738 | intron variant | C/T | snv | 0.61 | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
12 | 0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2014 |