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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 19 | 47065746 | 3 prime UTR variant | G/A | snv | 0.50 | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
4 | 14 | 79470621 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
7 | 9 | 70383416 | downstream gene variant | A/C | snv | 0.49 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
5 | 14 | 30045906 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 16 | 20246545 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||||
|
3 | 1 | 96479241 | intergenic variant | A/C | snv | 0.55 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 5 | 96514546 | intron variant | A/C | snv | 0.42 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
3 | 2 | 142202362 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 3 | 12075120 | intron variant | G/A | snv | 0.82 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||
|
4 | 15 | 67788548 | intron variant | A/T | snv | 0.44 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
3 | 1 | 177904075 | intron variant | G/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
3 | 2 | 24908447 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
2 | 5 | 96510626 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 14 | 62889535 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 2 | 646767 | intergenic variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 653874 | regulatory region variant | C/A;T | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 647580 | intergenic variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 7 | 25910925 | intergenic variant | A/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 5 | 96519387 | intron variant | G/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 5 | 96522554 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 11 | 8462542 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1 | 72372723 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 9 | 94306644 | downstream gene variant | A/G | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 7 | 131768766 | intergenic variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
4 | 1 | 86022231 | intron variant | C/A | snv | 0.27 | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 |