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 | 5 | 82251099 | intron variant | C/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 49410955 | intergenic variant | G/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 29918314 | intron variant | C/T | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 4070075 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 30471482 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 198710886 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 6 | 7140598 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 8338573 | non coding transcript exon variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 21 | 15432048 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 18003191 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 19 | 55013007 | intron variant | C/G;T | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 46611108 | intron variant | C/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 181121038 | intron variant | A/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 3 | 47046347 | intron variant | T/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 122741623 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 3 | 196789417 | intron variant | A/C;G | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 150620190 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 22706945 | intron variant | T/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 171142104 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 22165584 | regulatory region variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 20682296 | upstream gene variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 9343497 | 3 prime UTR variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 3 | 56815721 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 18 | 36846035 | intron variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 19979459 | intron variant | C/T | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |