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 | 16 | 88787321 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||||
|
13 | 6 | 135097778 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2018 | ||||||
|
6 | 22 | 37074184 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||||
|
1 | 8 | 42602307 | intergenic variant | T/C | snv | 0.69 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
2 | 11 | 5209677 | downstream gene variant | T/C | snv | 3.5E-02 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||||
|
14 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
1 | 16 | 88774054 | intron variant | G/A | snv | 0.49 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 18 | 46139716 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2016 | |||||||
|
4 | 19 | 12890733 | upstream gene variant | A/G | snv | 0.31 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
2 | 16 | 259156 | intron variant | C/A | snv | 0.19 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
5 | 1 | 3774964 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 3 | 196089324 | intergenic variant | C/T | snv | 0.42 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
5 | 2 | 46128709 | intron variant | C/A | snv | 0.10 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
3 | 6 | 30160096 | intron variant | C/T | snv | 0.11 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
5 | 16 | 248589 | intron variant | A/G | snv | 3.8E-02 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
2 | 1 | 203682799 | 5 prime UTR variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||||
|
8 | 6 | 25821542 | intron variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||
|
1 | 8 | 42537799 | non coding transcript exon variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
7 | 6 | 26107235 | downstream gene variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
5 | 1 | 158617176 | intron variant | A/T | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
8 | 7 | 100642673 | intron variant | A/G | snv | 0.65 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
4 | 11 | 5281833 | intron variant | G/A;T | snv | 4.2E-02 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||||
|
1 | 17 | 44216969 | intron variant | A/C | snv | 0.52 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||||
|
3 | 22 | 37110640 | upstream gene variant | T/C | snv | 0.40 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 16 | 88783013 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 |