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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.200 | 20 | 56248749 | 5 prime UTR variant | C/A | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 20 | 56248973 | missense variant | G/A | snv | 0.14 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.040 | 1.000 | 4 | 2010 | 2018 | ||||
|
2 | 0.925 | 0.080 | 18 | 60371454 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2018 | 2018 | |||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.882 | 0.120 | 15 | 67794500 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.742 | 0.440 | 10 | 67863299 | upstream gene variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
|
10 | 0.790 | 0.440 | 10 | 67903362 | intron variant | C/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.360 | 10 | 67906841 | synonymous variant | T/C | snv | 0.11 | 7.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
17 | 0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.160 | 11 | 74009120 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 1 | 74504631 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.807 | 0.200 | 5 | 77222617 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 7 | 95319437 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.851 | 0.160 | 5 | 96393270 | missense variant | G/C | snv | 0.27 | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 5 | 96416081 | missense variant | T/C | snv | 3.9E-02 | 3.2E-02 | 0.020 | 1.000 | 2 | 2014 | 2017 |