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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1 | 109275536 | 3 prime UTR variant | -/T | ins | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 21 | 34484464 | intron variant | A/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 5 | 149800331 | intron variant | A/C | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 148726941 | intron variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
10 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1 | 201946530 | 5 prime UTR variant | A/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.040 | 2 | 21047682 | upstream gene variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
3 | 7 | 151607887 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 19 | 10692116 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 94451093 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 109289661 | downstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 15 | 63060452 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 20 | 17865277 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 8 | 125469505 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
4 | 1 | 109264661 | intron variant | A/C;T | snv | 4.0E-06; 0.10 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||||
|
5 | 1 | 62606594 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | X | 47576648 | splice region variant | A/C;T | snv | 4.3E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.080 | 19 | 44875803 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1 | 66208980 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 10 | 2008 | 2013 | ||||
|
21 | 0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 | 0.700 | 1.000 | 5 | 2008 | 2012 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 4 | 2008 | 2013 | |||
|
12 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 0.700 | 1.000 | 3 | 2009 | 2013 |