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 | 6 | 41160234 | intron variant | A/G | snv | 0.17 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 12 | 103101373 | intron variant | T/C | snv | 0.57 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 1 | 39599289 | regulatory region variant | G/A | snv | 0.16 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 93142534 | intergenic variant | G/A | snv | 9.6E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 22693220 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 159722783 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1.000 | 0.040 | 18 | 12821594 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 15 | 60602766 | intron variant | C/T | snv | 0.70 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 132503926 | intron variant | G/A | snv | 0.62 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 116792862 | synonymous variant | G/A | snv | 0.33 | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 19 | 30608983 | intron variant | A/G | snv | 0.46 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 6 | 131436107 | intergenic variant | C/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 5 | 2012 | 2014 | ||||
|
1 | 1 | 159719598 | intergenic variant | T/A | snv | 0.32 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||||
|
2 | 1 | 159706221 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||||
|
3 | 0.925 | 0.160 | 1 | 159707006 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||
|
1 | 1 | 159699194 | intergenic variant | C/T | snv | 0.34 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
1 | 1 | 159736723 | intergenic variant | T/C | snv | 7.6E-02 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
1 | 1 | 159736770 | intergenic variant | T/C | snv | 0.15 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
1 | 1 | 159683809 | intergenic variant | C/T | snv | 0.36 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
1 | 1 | 159684073 | intergenic variant | C/A | snv | 5.5E-02 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
1 | 1 | 159706430 | upstream gene variant | A/G | snv | 5.6E-02 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
1 | 1 | 159727685 | intergenic variant | T/C | snv | 7.4E-02 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
9 | 0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||
|
17 | 0.742 | 0.320 | 12 | 120997624 | missense variant | G/A | snv | 0.34 | 0.27 | 0.700 | 1.000 | 3 | 2013 | 2014 |