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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
155 | 0.484 | 0.821 | 22 | 19963748 | missense variant | G/A | snp | 0.46 | 0.45 | 0.030 | 1.000 | 3 | 2011 | 2017 | |||
|
65 | 0.570 | 0.571 | 12 | 6845711 | synonymous variant | C/T | snp | 0.36 | 0.43 | 0.020 | 0.500 | 2 | 2009 | 2009 | |||
|
50 | 0.590 | 0.500 | 13 | 46895805 | synonymous variant | G/A | snp | 0.41 | 0.39 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
41 | 0.602 | 0.643 | 1 | 206773289 | intergenic variant | A/G | snp | 0.69 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
37 | 0.608 | 0.643 | 1 | 206773062 | regulatory region variant | T/G | snp | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
39 | 0.626 | 0.321 | 17 | 30237328 | intergenic variant | T/C | snp | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
35 | 0.642 | 0.357 | 5 | 177093242 | missense variant | G/A | snp | 0.33 | 0.27 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
36 | 0.657 | 0.321 | 1 | 46405089 | missense variant | C/A | snp | 0.24 | 0.28 | 0.020 | 0.500 | 2 | 2012 | 2014 | |||
|
24 | 0.662 | 0.393 | 2 | 233274722 | missense variant | A/G | snp | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
17 | 0.692 | 0.321 | 10 | 6057082 | intron variant | T/C | snp | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.801 | 0.214 | 5 | 132656717 | intron variant | A/C | snp | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.821 | 0.143 | 9 | 114804160 | intron variant | A/G | snp | 0.73 | 0.020 | 0.500 | 2 | 2012 | 2016 | ||||
|
6 | 0.821 | 0.179 | 17 | 45792776 | intron variant | C/T | snp | 0.46 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
6 | 0.821 | 0.143 | 10 | 99531836 | intergenic variant | T/C | snp | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.821 | 0.143 | 12 | 68157629 | intron variant | C/T | snp | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.821 | 0.179 | 16 | 3254463 | missense variant | C/T | snp | 0.24 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.821 | 0.107 | 7 | 30654159 | intron variant | C/T | snp | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.821 | 0.286 | 3 | 52226766 | intron variant | A/G | snp | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.846 | 0.071 | 17 | 45808001 | intron variant | G/T | snp | 0.47 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
4 | 0.846 | 0.107 | 3 | 38609776 | missense variant | C/T | snp | 2.4E-05 | 3.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.846 | 0.107 | 7 | 8678450 | intron variant | G/A,C | snp | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.878 | 0.107 | 17 | 19649164 | intron variant | C/T | snp | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.878 | 0.107 | 5 | 177089630 | missense variant | G/A,T | snp | 0.25 | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.923 | 0.036 | 2 | 218261086 | 5 prime UTR variant | C/T | snp | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.923 | 0.071 | 7 | 30654644 | intron variant | C/T | snp | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 |