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 | 0.925 | 0.160 | 16 | 11105821 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.200 | 21 | 42416281 | intron variant | A/G | snv | 0.45 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 11107571 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 16 | 28580209 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.200 | 3 | 105292046 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 6 | 32820734 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 12 | 47842840 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 7 | 150571010 | intron variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 13 | 99429512 | non coding transcript exon variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2010 | 2015 | |||||
|
2 | 0.925 | 0.200 | 6 | 32432567 | regulatory region variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 32927803 | intergenic variant | A/G | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.440 | 10 | 6348488 | intron variant | G/A | snv | 0.79 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.807 | 0.360 | 6 | 32721752 | downstream gene variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.120 | 4 | 73853224 | upstream gene variant | C/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 14 | 100839708 | intron variant | A/G | snv | 0.45 | 0.820 | 1.000 | 2 | 2010 | 2015 | ||||
|
2 | 0.925 | 0.160 | 6 | 126377573 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.925 | 0.120 | 6 | 31605150 | intergenic variant | T/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 32769730 | intergenic variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.851 | 0.200 | 6 | 31834764 | non coding transcript exon variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.280 | 6 | 32251212 | upstream gene variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 31563438 | downstream gene variant | T/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.790 | 0.520 | 6 | 33087761 | 3 prime UTR variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.240 | 6 | 33014071 | upstream gene variant | A/G | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 32864256 | downstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2007 | 2007 |