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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 0.030 | 0.667 | 3 | 2012 | 2018 | |||
|
2 | 0.925 | 0.080 | 14 | 101033612 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 19 | 10166651 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 9 | 101900303 | intergenic variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 10213318 | missense variant | C/G;T | snv | 5.5E-02; 1.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 14 | 102229572 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 14 | 102342318 | 3 prime UTR variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.200 | 12 | 102394036 | non coding transcript exon variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
26 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 5 | 102458457 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
14 | 0.732 | 0.200 | 11 | 102718452 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 10 | 102824175 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 10 | 102845764 | non coding transcript exon variant | C/T | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.060 | 0.833 | 6 | 2014 | 2019 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.100 | 1.000 | 13 | 2004 | 2018 | |||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.120 | 2 | 10448012 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 |