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 | 1 | 170403362 | intergenic variant | A/C | snv | 0.71 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 10 | 4921135 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 2 | 59724330 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
4 | 12 | 53948900 | downstream gene variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||||
|
1 | 9 | 93996060 | intergenic variant | A/G | snv | 0.31 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 2 | 118686653 | regulatory region variant | G/A | snv | 0.57 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
11 | 6 | 43790159 | downstream gene variant | C/A | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
3 | 1 | 119004219 | upstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 6 | 34224259 | downstream gene variant | C/A | snv | 2.5E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 17 | 70450720 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 8 | 25607174 | intron variant | G/T | snv | 0.49 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 15 | 62142957 | regulatory region variant | T/C | snv | 0.32 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 19 | 18278325 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 2 | 9558061 | upstream gene variant | T/C | snv | 0.63 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.080 | 17 | 17640408 | regulatory region variant | G/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 10 | 27615392 | regulatory region variant | C/T | snv | 0.39 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
7 | 3 | 157079820 | upstream gene variant | T/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
4 | 3 | 12447843 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
1 | 6 | 100167776 | TF binding site variant | A/G | snv | 0.22 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 10 | 121116075 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 119006795 | TF binding site variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||||
|
1 | 21 | 15149761 | intergenic variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 0.925 | 0.080 | 21 | 34221526 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 1 | 3056869 | downstream gene variant | A/T | snv | 0.24 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 17 | 81965842 | non coding transcript exon variant | T/C | snv | 0.53 | 0.700 | 1.000 | 2 | 2018 | 2019 |