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 | 1.000 | 0.080 | 2 | 181454574 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||
|
5 | 1.000 | 0.040 | 3 | 128578726 | upstream gene variant | G/A;C | snv | 0.31 | 0.700 | 1.000 | 3 | 2011 | 2017 | ||||
|
3 | 6 | 31253891 | intergenic variant | C/A;G | snv | 0.55 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||||
|
2 | 16 | 85923808 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1 | 185422035 | regulatory region variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 9 | 128016459 | intergenic variant | G/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.882 | 19 | 18287818 | upstream gene variant | G/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 3 | 46323369 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 17 | 59850066 | upstream gene variant | TT/-;T;TTT;TTTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 9 | 88920798 | regulatory region variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 12 | 4224753 | intergenic variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 16 | 85955858 | regulatory region variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 16 | 85982722 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 2 | 226426699 | intergenic variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 15 | 79975053 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 8 | 6843366 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 8 | 11979005 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 16 | 85895099 | upstream gene variant | C/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 19 | 33260946 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 16 | 85976154 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 0.925 | 0.080 | 16 | 85939422 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 14 | 103368791 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 15 | 79930230 | downstream gene variant | T/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 18287220 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |