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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 8 | 129559864 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 12 | 109904616 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 83054873 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 92118652 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 2 | 28463094 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 18 | 60304392 | downstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 6 | 109055444 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
13 | 10 | 27068541 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 3088056 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 3 | 48941172 | intron variant | AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 5 | 142130697 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 19 | 48640988 | intron variant | -/G | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 31263867 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 6 | 16744456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 64743428 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 31382526 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.040 | 9 | 128721272 | missense variant | T/A;C | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 16 | 11254849 | missense variant | C/G;T | snv | 5.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 871759 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 32443530 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 12 | 121796183 | splice region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 4 | 711285 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 136168220 | regulatory region variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 67646903 | missense variant | G/A;T | snv | 3.1E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 10 | 92804854 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |