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 | 0.200 | 6 | 31381371 | downstream gene variant | G/A | snv | 0.030 | 1.000 | 3 | 2013 | 2015 | |||||
|
1 | 1.000 | 0.200 | 12 | 10408358 | missense variant | T/C | snv | 0.63 | 0.61 | 0.820 | 1.000 | 3 | 2013 | 2017 | |||
|
1 | 1.000 | 0.200 | 2 | 191145762 | intron variant | A/C | snv | 0.55 | 0.810 | 1.000 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.200 | 1 | 67281340 | downstream gene variant | G/C | snv | 0.23 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
3 | 0.882 | 0.200 | 1 | 91861488 | missense variant | G/A | snv | 0.13 | 0.13 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
1 | 1.000 | 0.200 | 6 | 31368641 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
5 | 0.925 | 0.200 | 6 | 31368791 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.200 | 7 | 150548168 | intergenic variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 7 | 150653887 | intergenic variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 7 | 150533604 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.200 | 2 | 48420887 | TF binding site variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 17 | 60150074 | missense variant | C/T | snv | 2.5E-04 | 1.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.200 | 16 | 3247166 | missense variant | G/C;T | snv | 4.0E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.200 | 5 | 96776379 | 3 prime UTR variant | T/A;G | snv | 3.3E-05; 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.200 | 18 | 21028924 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.200 | 18 | 20959861 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.200 | 18 | 20967783 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.200 | 16 | 30498669 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.200 | 7 | 150534221 | intergenic variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 1 | 67281732 | downstream gene variant | A/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.200 | 5 | 96786754 | non coding transcript exon variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.200 | 6 | 52187730 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.200 | 8 | 31973417 | intron variant | T/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 22 | 31278338 | missense variant | C/G;T | snv | 6.4E-03; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.200 | 7 | 150538695 | downstream gene variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 |