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 | 0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2014 | |||||
|
6 | 0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 | 0.020 | 0.500 | 2 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 7 | 18992312 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.807 | 0.400 | 1 | 173197108 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | 3 | 148719716 | intron variant | T/A;C | snv | 0.89 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
9 | 0.851 | 0.200 | 4 | 154562556 | upstream gene variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | 12 | 117288937 | intron variant | T/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 20 | 14284769 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
10 | 0.763 | 0.440 | 3 | 186853407 | intron variant | A/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 12 | 117281017 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 9153118 | intron variant | A/G | snv | 0.82 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | 3 | 148697758 | upstream gene variant | A/G | snv | 0.20 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
12 | 0.752 | 0.400 | 8 | 118952831 | upstream gene variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.080 | 22 | 46390418 | missense variant | T/A;C | snv | 4.0E-06; 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 173208097 | upstream gene variant | C/T | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.160 | 11 | 116837304 | intron variant | A/G | snv | 0.56 | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 6 | 44626422 | intergenic variant | T/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.010 | 1.000 | 1 | 2016 | 2016 |