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 | 11 | 2631427 | non coding transcript exon variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 12 | 89675499 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 6 | 1620807 | downstream gene variant | T/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 5 | 7243868 | downstream gene variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.925 | 0.080 | 11 | 1865838 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 20 | 10986566 | intron variant | T/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 54002671 | intergenic variant | T/G | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 12 | 89719293 | intron variant | T/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 11 | 1899025 | intron variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 3 | 53601568 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 10985149 | intron variant | T/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 112229871 | missense variant | T/C;G | snv | 4.1E-06; 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
10 | 0.925 | 0.040 | 12 | 89619312 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 10 | 103179458 | intron variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||||
|
9 | 1.000 | 0.040 | 11 | 100739815 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
9 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||
|
3 | 5 | 32829823 | intergenic variant | T/C | snv | 0.50 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
4 | 2 | 164106976 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2011 | 2018 | ||||||
|
8 | 1.000 | 0.040 | 17 | 46935905 | 3 prime UTR variant | T/C | snv | 9.2E-02 | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||
|
3 | 12 | 12720814 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
6 | 1.000 | 0.040 | 10 | 102856906 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 11 | 61510774 | 3 prime UTR variant | T/C | snv | 0.16 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 2 | 114179758 | intergenic variant | T/C | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 16451011 | intron variant | T/C | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 1980665 | intron variant | T/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |