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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 0.840 | 1.000 | 7 | 2008 | 2018 | ||||
|
13 | 0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv | 0.840 | 1.000 | 7 | 2008 | 2014 | |||||
|
5 | 0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv | 0.830 | 1.000 | 6 | 2008 | 2014 | |||||
|
4 | 0.851 | 0.280 | 15 | 69726651 | intron variant | A/G | snv | 0.67 | 0.830 | 1.000 | 6 | 2008 | 2014 | ||||
|
5 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 0.830 | 1.000 | 5 | 2008 | 2013 | ||||
|
3 | 0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 | 0.830 | 1.000 | 3 | 2008 | 2010 | |||
|
3 | 0.925 | 0.120 | 6 | 33579060 | intron variant | T/C | snv | 0.74 | 0.820 | 1.000 | 3 | 2012 | 2013 | ||||
|
4 | 0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv | 0.820 | 1.000 | 3 | 2010 | 2012 | |||||
|
4 | 0.851 | 0.200 | 2 | 241431686 | missense variant | C/A;T | snv | 4.1E-06; 9.3E-02 | 0.820 | 1.000 | 3 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 16 | 85922065 | 3 prime UTR variant | C/T | snv | 0.40 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.120 | 15 | 40111456 | upstream gene variant | C/G | snv | 0.50 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.120 | 9 | 22336997 | intergenic variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
3 | 0.882 | 0.160 | 9 | 22206988 | intron variant | C/A;T | snv | 0.43 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.120 | 4 | 108105258 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.120 | 8 | 102566646 | regulatory region variant | T/G | snv | 0.41 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.120 | 11 | 2299865 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.120 | 2 | 37368946 | intron variant | C/T | snv | 0.43 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.200 | 16 | 85910833 | intron variant | A/G;T | snv | 0.35 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 0.925 | 0.120 | 18 | 59955055 | TF binding site variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.120 | 10 | 88999967 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.120 | 18 | 63126261 | 3 prime UTR variant | C/T | snv | 6.0E-02 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 241253433 | missense variant | T/C;G | snv | 0.19; 8.4E-05 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.800 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 15 | 56483399 | intergenic variant | A/G | snv | 8.0E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 |