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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.030 | 0.667 | 3 | 2011 | 2019 | |||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
8 | 0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 32703120 | downstream gene variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 6 | 32699985 | intergenic variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
2 | 1.000 | 0.080 | 1 | 24155450 | 3 prime UTR variant | G/A | snv | 0.63 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
6 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 111995520 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.200 | 2 | 218136011 | 3 prime UTR variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 2388869 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
3 | 0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.882 | 0.160 | 2 | 112835941 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 154431930 | intron variant | A/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
4 | 0.851 | 0.160 | 7 | 55152484 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.710 | 1.000 | 2 | 2012 | 2018 | ||||
|
4 | 0.851 | 0.160 | 12 | 4273870 | 5 prime UTR variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 17 | 39984674 | intron variant | A/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 11 | 14896670 | upstream gene variant | C/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.020 | 1.000 | 2 | 2016 | 2020 | |||
|
11 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
7 | 0.807 | 0.200 | 11 | 71454579 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 |