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 | 1 | 112716059 | non coding transcript exon variant | T/C | snv | 8.9E-02 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||||
|
1 | 18 | 5585159 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||||
|
1 | 12 | 3283185 | 3 prime UTR variant | A/G | snv | 0.44 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||||
|
1 | 8 | 23862058 | TF binding site variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2019 | 2019 | |||||||
|
1 | 12 | 239710 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 10 | 68192084 | intron variant | G/C | snv | 0.45 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 12 | 15172097 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 12 | 112115228 | intergenic variant | T/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 9 | 136216033 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 1 | 100342807 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 6 | 32612725 | intergenic variant | G/A | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 3 | 186715257 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 5 | 39421634 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 3 | 185604855 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 5 | 39426205 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 7 | 1246556 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 3 | 141997230 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 20 | 63704982 | non coding transcript exon variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 4 | 102817815 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 20 | 57568113 | 3 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 15 | 45420141 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 13 | 71798392 | intron variant | T/A | snv | 0.51 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 2 | 169139071 | intron variant | C/T | snv | 4.1E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 6 | 24353817 | intron variant | T/C | snv | 9.7E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 6 | 133528651 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 |