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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.160 | 6 | 36655123 | regulatory region variant | C/A | snv | 0.28 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||
|
9 | 0.790 | 0.080 | X | 9783434 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.080 | 12 | 4259186 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
10 | 0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
10 | 0.776 | 0.080 | 12 | 4279105 | intron variant | C/T | snv | 8.7E-02 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
10 | 0.776 | 0.080 | 5 | 135163402 | intron variant | C/A | snv | 0.63 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
9 | 0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
11 | 0.763 | 0.160 | 2 | 191722478 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 4 | 93965880 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.752 | 0.160 | 10 | 116727589 | intron variant | T/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 12 | 4296223 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.776 | 0.160 | 12 | 114678547 | intron variant | T/A;G | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.700 | 1.000 | 5 | 2014 | 2019 | ||||
|
13 | 0.763 | 0.080 | 18 | 48924606 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 5 | 2014 | 2019 | ||||
|
18 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 4 | 2014 | 2019 | ||||
|
23 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 0.700 | 1.000 | 4 | 2014 | 2019 | ||||
|
16 | 0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 3 | 2014 | 2016 | ||||
|
10 | 0.790 | 0.080 | 20 | 62394395 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.080 | 8 | 116635549 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2014 | 2019 | |||||
|
9 | 0.790 | 0.080 | 15 | 32720301 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.080 | 12 | 6276561 | intergenic variant | C/T | snv | 0.84 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
9 | 0.790 | 0.080 | 10 | 99529178 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2016 |