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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
1 | 17 | 10979696 | intergenic variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
5 | 5 | 32804422 | intergenic variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 5 | 32814922 | regulatory region variant | A/G | snv | 0.65 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 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 | |||||||
|
2 | 1.000 | 0.080 | 1 | 155946002 | downstream gene variant | G/A | snv | 3.7E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.080 | 16 | 56959249 | upstream gene variant | G/A | snv | 0.23 | 0.010 | 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 | |||||||
|
7 | 20 | 10988382 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 96709521 | intron variant | AT/- | del | 7.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.120 | 9 | 124119169 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.080 | 3 | 186835068 | intergenic variant | A/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 146039555 | upstream gene variant | C/T | snv | 0.89 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 2 | 164050310 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 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 | 4 | 189396926 | intergenic variant | C/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.080 | 20 | 6786464 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
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 | ||||||
|
6 | 3 | 27521497 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 148745735 | downstream gene variant | T/C | snv | 0.95 | 0.010 | < 0.001 | 1 | 2018 | 2018 |