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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 | 0.720 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 0.925 | 0.120 | 7 | 35307237 | intergenic variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 36880367 | regulatory region variant | G/T | snv | 0.90 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 5 | 168286995 | upstream gene variant | C/T | snv | 2.1E-02 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 3 | 166329716 | intergenic variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 20620263 | downstream gene variant | A/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 4 | 69576447 | intron variant | A/G | snv | 0.76 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 18 | 27347470 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 17 | 16974091 | upstream gene variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 6 | 3580855 | downstream gene variant | T/A | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 16 | 58942687 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 3 | 166315136 | intergenic variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 10 | 8603200 | intergenic variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.827 | 0.200 | 7 | 87595783 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 14 | 32706736 | intron variant | T/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 14 | 32625843 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 10 | 5049762 | intron variant | C/T | snv | 0.30 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 17566321 | intron variant | A/C | snv | 0.93 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 |