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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 4 | 80236549 | regulatory region variant | T/C | snv | 0.27 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
3 | 3 | 27507409 | regulatory region variant | A/G | snv | 0.30 | 0.710 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 5 | 33204354 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 27288591 | intergenic variant | A/G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 83065441 | intergenic variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 83066256 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 11 | 94538497 | intergenic variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
8 | 0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 10 | 103199143 | intergenic variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 7 | 27312031 | intergenic variant | G/A | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 5 | 32814922 | regulatory region variant | A/G | snv | 0.65 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 5 | 158418394 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1 | 188865413 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 36425491 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 4 | 80237391 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 96709521 | intron variant | AT/- | del | 7.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.710 | 1.000 | 1 | 2015 | 2018 | ||||
|
5 | 2 | 164050310 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.760 | 0.857 | 1 | 2010 | 2018 | |||||
|
1 | 10 | 113982069 | regulatory region variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 20 | 10985350 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 119341744 | intergenic variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 119341027 | intergenic variant | G/C | snv | 0.83 | 0.700 | 1.000 | 1 | 2011 | 2011 |