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 | 1.000 | 0.040 | 2 | 55884174 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 4 | 2008 | 2010 | ||||
|
1 | 3 | 141375367 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 4 | 2008 | 2011 | ||||||
|
1 | 1.000 | 0.040 | 3 | 141386728 | 5 prime UTR variant | A/G | snv | 0.52 | 0.700 | 1.000 | 4 | 2008 | 2011 | ||||
|
2 | 0.882 | 0.080 | 12 | 65964567 | 3 prime UTR variant | C/T | snv | 0.48 | 0.700 | 1.000 | 3 | 2007 | 2008 | ||||
|
3 | 1.000 | 0.040 | 6 | 26233159 | non coding transcript exon variant | A/G | snv | 0.26 | 0.700 | 1.000 | 3 | 2008 | 2009 | ||||
|
1 | 9 | 75927370 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||||
|
1 | 6 | 34227234 | regulatory region variant | G/T | snv | 0.80 | 0.700 | 1.000 | 3 | 2008 | 2010 | ||||||
|
1 | 7 | 92635096 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 3 | 2008 | 2009 | ||||||
|
4 | 1 | 16980180 | intron variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||||
|
1 | 0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 3 | 2008 | 2013 | ||||
|
1 | 0.882 | 0.160 | 3 | 172447937 | synonymous variant | C/T | snv | 0.31 | 0.24 | 0.700 | 1.000 | 3 | 2010 | 2013 | |||
|
2 | 0.925 | 0.080 | 3 | 141383991 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 3 | 2008 | 2011 | ||||
|
1 | 9 | 130588697 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 3 | 2008 | 2013 | ||||||
|
1 | 0.882 | 0.200 | 12 | 65965972 | 3 prime UTR variant | C/A | snv | 0.56 | 0.700 | 1.000 | 3 | 2008 | 2010 | ||||
|
1 | 5 | 32888712 | non coding transcript exon variant | C/T | snv | 0.40 | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1 | 0.925 | 0.120 | 9 | 95497421 | intron variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 3 | 141424588 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
1 | 12 | 69433878 | intergenic variant | G/T | snv | 0.42 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
1 | 15 | 83899406 | intron variant | T/A | snv | 0.63 | 0.700 | 1.000 | 2 | 2008 | 2010 | ||||||
|
1 | 8 | 56183249 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 2 | 2008 | 2010 | ||||||
|
1 | 1.000 | 0.080 | 12 | 93584728 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2008 | 2010 | |||||
|
1 | 1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2008 | 2010 | |||||
|
1 | 6 | 34246545 | missense variant | C/A;G | snv | 9.0E-06; 0.85 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
1 | 17 | 63685671 | intron variant | G/C | snv | 0.39 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | X | 2967682 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 2 | 2011 | 2012 |