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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 9 | 82800066 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
4 | 10 | 100101678 | downstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
10 | 0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
22 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 1.000 | 0.040 | 10 | 100035604 | regulatory region variant | T/A;G | snv | 0.43 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 3 | 120706484 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 5 | 85922051 | intergenic variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 2 | 204118831 | intergenic variant | T/C | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 183389270 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 3 | 355870 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 16 | 16636871 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 2 | 149707970 | intron variant | C/T | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1 | 76433779 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 22 | 31829377 | intron variant | C/A | snv | 6.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 5 | 174435441 | intron variant | A/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 1 | 26854576 | 3 prime UTR variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 6 | 138018697 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |