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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 7 | 55152484 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 22 | 31867176 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.776 | 0.200 | 2 | 218136011 | 3 prime UTR variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 19 | 6713280 | synonymous variant | C/G;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.807 | 0.200 | 11 | 71454579 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
5 | 0.851 | 0.240 | 6 | 32710820 | upstream gene variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2013 | 2017 | |||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.763 | 0.240 | 4 | 153704799 | missense variant | C/A | snv | 2.8E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.763 | 0.240 | 6 | 32607958 | intergenic variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.060 | 1.000 | 6 | 2014 | 2017 | |||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
12 | 0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.776 | 0.280 | 19 | 7747650 | upstream gene variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.280 | 4 | 76021147 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |