Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 1 | 7965425 | missense variant | G/C | snv | 7.0E-06 |
|
Nervous System Diseases | 0.810 | 1.000 | 13 | 2003 | 2013 | |||||||
|
0.807 | 0.080 | 1 | 7962863 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 13 | 2003 | 2013 | ||||||||
|
0.807 | 0.080 | 1 | 7984930 | missense variant | A/C | snv | 1.4E-04 | 5.9E-04 |
|
Nervous System Diseases | 0.800 | 1.000 | 13 | 2003 | 2013 | ||||||
|
1 | 7982766 | intron variant | G/T | snv | 0.25 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 7961913 | 5 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 7961913 | 5 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.080 | 1 | 7970951 | missense variant | G/A;T | snv | 3.9E-04; 2.0E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 12 | 2003 | 2013 | |||||||
|
0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 |
|
Digestive System Diseases | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||||
|
0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 1 | 7965348 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 7965336 | frameshift variant | -/T | delins | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.100 | 1.000 | 13 | 2003 | 2017 | ||||||||
|
0.807 | 0.080 | 1 | 7962863 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.050 | 0.600 | 5 | 2003 | 2016 | ||||||||
|
0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 7970934 | missense variant | G/A | snv | 7.9E-03 | 7.0E-03 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||||
|
0.807 | 0.080 | 1 | 7962863 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.790 | 0.080 | 1 | 7970951 | missense variant | G/A;T | snv | 3.9E-04; 2.0E-05 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2005 | 2013 | |||||||
|
0.790 | 0.080 | 1 | 7970951 | missense variant | G/A;T | snv | 3.9E-04; 2.0E-05 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2004 | 2010 | |||||||
|
1.000 | 0.040 | 1 | 7962815 | synonymous variant | G/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.040 | 1 | 7962815 | synonymous variant | G/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 |