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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 11 | 126201454 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 1 | 107135646 | upstream gene variant | G/C | snv | 3.2E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 4 | 73867169 | upstream gene variant | C/A | snv | 0.17 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
5 | 12 | 69338325 | TF binding site variant | T/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 3 | 165764276 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 19 | 38301201 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 4 | 87541577 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 1 | 22617716 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 10 | 52777079 | regulatory region variant | T/G | snv | 0.71 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 5 | 148182067 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 19 | 43302407 | downstream gene variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 106685899 | upstream gene variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 100706960 | regulatory region variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 102305323 | regulatory region variant | T/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 80941246 | regulatory region variant | G/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 80940826 | TF binding site variant | T/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 49576607 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 836043 | upstream gene variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 36145821 | downstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 122633543 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 18271957 | downstream gene variant | -/ACTTA | delins | 0.82 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 71891700 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 136427384 | downstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 124284185 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |