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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.100 | 0.818 | 11 | 2007 | 2018 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.100 | 0.900 | 10 | 2007 | 2018 | ||||
|
5 | 0.827 | 0.240 | 6 | 137878280 | intron variant | G/T | snv | 0.58 | 0.860 | 1.000 | 10 | 2009 | 2015 | ||||
|
4 | 0.851 | 0.160 | 5 | 151098757 | downstream gene variant | G/A | snv | 7.1E-02 | 0.820 | 1.000 | 7 | 2009 | 2015 | ||||
|
7 | 0.851 | 0.120 | 6 | 31285148 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 5 | 2009 | 2015 | ||||
|
8 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 0.810 | 1.000 | 5 | 2009 | 2015 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.830 | 1.000 | 5 | 2009 | 2016 | |||||
|
3 | 0.882 | 0.280 | 17 | 27779649 | intron variant | A/G | snv | 0.31 | 0.820 | 1.000 | 5 | 2010 | 2015 | ||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.810 | 1.000 | 4 | 2008 | 2018 | ||||
|
4 | 0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv | 0.820 | 1.000 | 4 | 2009 | 2011 | |||||
|
2 | 0.925 | 0.080 | 14 | 35363460 | intron variant | T/G | snv | 0.60 | 0.810 | 1.000 | 4 | 2010 | 2015 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2014 | 2020 | |||||
|
1 | 1.000 | 0.040 | 9 | 32523739 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 56045425 | upstream gene variant | A/G | snv | 0.14 | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||
|
2 | 0.925 | 0.040 | 6 | 31188008 | intergenic variant | G/C | snv | 0.15 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 162404181 | intron variant | T/C | snv | 9.6E-02 | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.030 | 1.000 | 3 | 2014 | 2020 | ||||
|
17 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 111352511 | intron variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2010 | 2015 | |||||
|
6 | 0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 | 0.810 | 1.000 | 3 | 2012 | 2016 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
|
8 | 0.776 | 0.320 | 6 | 137876687 | intron variant | C/T | snv | 0.70 | 0.800 | 1.000 | 3 | 2012 | 2016 | ||||
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2015 | 2019 | |||||
|
2 | 0.925 | 0.040 | 4 | 102593288 | non coding transcript exon variant | C/G | snv | 0.42 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
5 | 0.827 | 0.160 | 6 | 52187159 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 |