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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.240 | 7 | 106285885 | 5 prime UTR variant | C/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.160 | 2 | 9555777 | 5 prime UTR variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 1 | 34794360 | missense variant | A/C;G;T | snv | 0.61 | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.160 | 2 | 9557243 | upstream gene variant | A/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.020 | 1.000 | 2 | 2010 | 2020 | |||
|
6 | 0.827 | 0.400 | 2 | 60892336 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.160 | 20 | 35174686 | non coding transcript exon variant | C/T | snv | 0.55 | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
16 | 0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 0.500 | 2 | 2014 | 2016 | ||||
|
11 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
2 | 0.925 | 0.080 | 6 | 106326589 | upstream gene variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 223142735 | intron variant | G/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 3 | 52218953 | non coding transcript exon variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 6 | 31729610 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 3 | 12292917 | intron variant | T/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 |