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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 8 | 80183160 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2014 | 2019 | |||||
|
5 | 0.925 | 0.200 | 21 | 35343463 | intron variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 32855790 | intron variant | G/A | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 17 | 9236774 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.240 | 3 | 27736288 | intergenic variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 6 | 33075103 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 33168368 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||
|
1 | 1.000 | 0.120 | 3 | 112852072 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 6 | 32432311 | TF binding site variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 32435878 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 3 | 136683218 | intron variant | G/A | snv | 1.3E-02 | 0.800 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 20501107 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 32821101 | intron variant | C/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.200 | 6 | 32819398 | intron variant | G/C | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.200 | 6 | 32820734 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.240 | 7 | 106285885 | 5 prime UTR variant | C/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 32348638 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 5 | 35861166 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.851 | 0.240 | 11 | 61828092 | intron variant | C/T | snv | 0.11 | 0.810 | 1.000 | 4 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.120 | 2 | 100208905 | intron variant | C/T | snv | 0.46 | 0.800 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 11 | 105004030 | intron variant | G/A | snv | 0.13 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 11 | 33079306 | non coding transcript exon variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.240 | 11 | 118001371 | 3 prime UTR variant | G/A;T | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 13 | 113919624 | non coding transcript exon variant | A/G;T | snv | 0.17; 7.4E-06 | 0.800 | 1.000 | 1 | 2013 | 2013 |