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 | 5 | 111131801 | downstream gene variant | C/T | snv | 0.61 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
4 | 0.882 | 0.080 | 19 | 33230549 | upstream gene variant | C/T | snv | 5.5E-02 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 0.882 | 0.160 | 10 | 9007290 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 10 | 9010779 | regulatory region variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
3 | 0.925 | 0.080 | 7 | 20521373 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
4 | 0.882 | 0.120 | 5 | 111134439 | downstream gene variant | C/A | snv | 0.56 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 8 | 80380364 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
6 | 0.882 | 0.160 | 11 | 76582714 | intergenic variant | G/A | snv | 0.44 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 1.000 | 0.120 | 4 | 38764099 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 4 | 38762491 | upstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 40493132 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 0.925 | 0.080 | 5 | 110854353 | intergenic variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 5 | 40496849 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 6130940 | intergenic variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102471113 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.080 | 2 | 234770601 | regulatory region variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 2 | 102408814 | upstream gene variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 2 | 102263004 | regulatory region variant | C/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 102403570 | downstream gene variant | T/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102403280 | downstream gene variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102463056 | intergenic variant | C/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 10 | 9015459 | regulatory region variant | G/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 5 | 40490688 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 5 | 110845538 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |