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 | 1 | 152917994 | TF binding site variant | G/A;C | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 222184302 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 0.925 | 0.080 | 4 | 71777771 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 4 | 72109031 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 4 | 72166226 | intergenic variant | C/T | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 71575200 | downstream gene variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 71713007 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 4 | 71853316 | intergenic variant | G/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.080 | 4 | 71739800 | downstream gene variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 4 | 71879550 | intergenic variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.925 | 0.080 | 4 | 71743681 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 4 | 72305473 | intron variant | C/A | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 72005565 | intergenic variant | T/C | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 71750610 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 5 | 155047146 | regulatory region variant | C/T | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 6 | 88403098 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
2 | 7 | 24185113 | intergenic variant | T/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 11 | 14753045 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 11 | 14762564 | intron variant | G/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 0.882 | 0.080 | 11 | 71523061 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 11 | 14855172 | intron variant | G/A | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 |