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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 12 | 57670954 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 6 | 32615876 | regulatory region variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.240 | 20 | 46111557 | TF binding site variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | 7 | 74619286 | regulatory region variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 18 | 26862573 | stop gained | C/A;G | snv | 3.2E-05; 2.9E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 18 | 26866562 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.200 | 6 | 106132754 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.280 | 20 | 46128768 | intron variant | G/A;C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 116533925 | non coding transcript exon variant | G/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 116541336 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 1 | 116545157 | intron variant | C/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 1 | 116561593 | intron variant | A/G | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 60988884 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 10 | 89207242 | missense variant | C/G | snv | 3.7E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.240 | 12 | 57768956 | missense variant | A/G | snv | 0.38 | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
16 | 0.716 | 0.400 | 8 | 58500365 | upstream gene variant | G/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 157678753 | missense variant | T/C | snv | 5.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.200 | 1 | 157700500 | 5 prime UTR variant | C/A;G | snv | 5.6E-05; 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 13 | 92245255 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 |