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 | 0.080 | 9 | 99865020 | 3 prime UTR variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.160 | 4 | 99428512 | missense variant | C/G | snv | 8.5E-02; 4.9E-04 | 7.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 98578034 | synonymous variant | T/C | snv | 0.16 | 0.19 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 9 | 98542066 | intron variant | C/G;T | snv | 0.25 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 9 | 98515399 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 9 | 98442880 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
6 | 0.882 | 0.080 | 10 | 91588363 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 9 | 89160966 | intron variant | C/G;T | snv | 0.12 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89153733 | intron variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89149212 | intron variant | T/C | snv | 0.93 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89110472 | intron variant | G/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89079205 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89065616 | intron variant | C/G | snv | 0.76 | 0.64 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 9 | 89054447 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89045243 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89042048 | synonymous variant | T/A;C | snv | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89013167 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 6 | 88151570 | intron variant | G/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 6 | 88144597 | synonymous variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.200 | 6 | 88141462 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
14 | 0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 |