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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 9 | 5877295 | downstream gene variant | -/A | delins | 3.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 55371390 | intron variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55349264 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 17 | 6692079 | intron variant | A/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 41327433 | intron variant | A/C | snv | 0.91 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 14 | 55216493 | intergenic variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55005673 | non coding transcript exon variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55271114 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55382254 | intron variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55126454 | intron variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
12 | 0.752 | 0.200 | 14 | 55138318 | missense variant | A/C | snv | 4.1E-06; 0.45 | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 9 | 133258308 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 232383404 | regulatory region variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 14 | 55441718 | intron variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 3 | 16901018 | intron variant | A/C | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 55425320 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55110098 | intergenic variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55418110 | intron variant | A/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55159259 | intron variant | A/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55440131 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55334969 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55557104 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 88285078 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 55062195 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |