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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 21 | 37811882 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 24575924 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 186683820 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 10 | 99798989 | intron variant | G/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 35737829 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 7 | 30922175 | missense variant | G/A | snv | 3.1E-02 | 2.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 16 | 89918814 | 5 prime UTR variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 38894643 | missense variant | C/A;T | snv | 8.0E-06; 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 10 | 111079843 | 3 prime UTR variant | C/A | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 38894920 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 46399999 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 1 | 181797301 | intron variant | T/C | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 16564838 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 13 | 33013514 | upstream gene variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 166272746 | missense variant | C/A | snv | 3.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 5 | 149166179 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 13 | 95027878 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 69081680 | intron variant | T/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 46420268 | TF binding site variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 154093311 | missense variant | A/C;T | snv | 2.8E-05; 0.81 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 22 | 19950010 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 8 | 53240563 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 154107531 | stop gained | C/A;G;T | snv | 6.6E-06; 6.6E-06; 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 147514294 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
3 | 8 | 53237545 | intron variant | A/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 |