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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 9 | 1202371 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 19 | 57166826 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 7 | 37949493 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 6 | 149441401 | regulatory region variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 8 | 69080145 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 17 | 78885621 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 15 | 88702008 | regulatory region variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 8 | 108215779 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 22 | 46025962 | regulatory region variant | G/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 20 | 40399796 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 7 | 117277064 | 3 prime UTR variant | C/T | snv | 0.41 | 0.710 | 0.500 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.120 | 19 | 48942560 | missense variant | T/C | snv | 0.28; 4.0E-06 | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 19 | 48935106 | missense variant | G/A | snv | 0.34 | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 |