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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.030 | 0.667 | 3 | 2012 | 2017 | ||||
|
5 | 0.827 | 0.240 | 7 | 106288069 | upstream gene variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.320 | 6 | 32433162 | intergenic variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.360 | 6 | 32421871 | intergenic variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 7 | 35515178 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 4 | 189571800 | intergenic variant | T/C | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.360 | 10 | 6072697 | upstream gene variant | C/A | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 21 | 43348682 | intergenic variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 12 | 9218736 | intergenic variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 14 | 92110162 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 6 | 35534425 | TF binding site variant | T/C | snv | 0.85 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
13 | 0.742 | 0.240 | 2 | 54200842 | intron variant | A/T | snv | 0.56 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 2 | 54247527 | intron variant | T/A;G | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 4 | 73455883 | 3 prime UTR variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 4 | 73445127 | splice region variant | A/G;T | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 4 | 73435958 | intron variant | C/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.160 | 1 | 230710009 | missense variant | T/C | snv | 7.2E-04 | 6.8E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2005 | 2005 |