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 | 12 | 65961131 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
1 | 5 | 171908289 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 123161256 | synonymous variant | G/A | snv | 0.74 | 0.63 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 3 | 114983210 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 1 | 159782276 | missense variant | G/A;T | snv | 8.5E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 22 | 32663679 | intron variant | G/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 5 | 32771832 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 17 | 67350000 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 12 | 65912661 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 14 | 24365909 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 20 | 35318101 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 17 | 64496464 | missense variant | C/A;T | snv | 4.0E-06; 0.15 | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 12 | 115378637 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 12 | 115386277 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 4 | 78993185 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 17 | 63694690 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 7 | 2853170 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 4 | 81235255 | intergenic variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 35283418 | intron variant | A/G | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 35297934 | synonymous variant | C/T | snv | 1.4E-02 | 5.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 4 | 17990709 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 4 | 18009579 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 2701385 | intron variant | C/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 132381358 | non coding transcript exon variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 68227553 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |