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 | 0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 | 0.810 | 1.000 | 3 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.040 | 15 | 41271752 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
1 | 0.925 | 0.120 | 22 | 49997051 | missense variant | A/G | snv | 0.56 | 0.55 | 0.800 | 1.000 | 3 | 2010 | 2017 | |||
|
1 | 1.000 | 0.040 | 5 | 593968 | intergenic variant | T/C | snv | 0.29 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 0.925 | 0.120 | 12 | 68110812 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 107862996 | intergenic variant | A/C | snv | 0.34 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 0.925 | 0.120 | 5 | 583327 | intergenic variant | G/A | snv | 0.16 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.040 | 20 | 35211477 | intron variant | T/G | snv | 0.54 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv | 0.810 | 1.000 | 2 | 2008 | 2018 | |||||
|
1 | 0.882 | 0.160 | 3 | 53028645 | intron variant | T/C | snv | 0.46 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 198016944 | intron variant | G/A | snv | 0.20 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 2570077 | downstream gene variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 0.882 | 0.080 | 9 | 5213687 | intergenic variant | T/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 12 | 12495909 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 19 | 46616653 | downstream gene variant | T/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 57514156 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 19 | 46620526 | 3 prime UTR variant | A/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 19780778 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 101000498 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 68552601 | intron variant | G/C | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 35265126 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 0.925 | 0.040 | 21 | 15444732 | intron variant | A/G | snv | 0.44 | 0.810 | 1.000 | 1 | 2011 | 2013 | ||||
|
1 | 0.925 | 0.120 | 1 | 19813543 | upstream gene variant | G/A;T | snv | 0.24 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 22 | 35333728 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 198006693 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 |