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 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 2 | 102349850 | intron variant | G/A | snv | 0.33 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.160 | 2 | 102338193 | 5 prime UTR variant | C/T | snv | 0.18 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 102344364 | 3 prime UTR variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 2 | 102351615 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.710 | 1.000 | 2 | 2010 | 2020 | ||||||
|
0.925 | 0.160 | 2 | 102338193 | 5 prime UTR variant | C/T | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.710 | 0.500 | 2 | 2010 | 2019 | ||||||
|
0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.080 | 2 | 102337157 | 5 prime UTR variant | G/A;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.820 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.810 | 1.000 | 3 | 2011 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 102338622 | intron variant | G/A | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.810 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 102340888 | intron variant | C/T | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 2 | 102339008 | missense variant | C/A | snv | 0.23 | 0.30 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.080 | 2 | 102338596 | intron variant | G/C | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
Infections; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.080 | 2 | 102349607 | intron variant | G/A | snv | 0.42 |
|
Infections; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 2 | 102316052 | intron variant | G/A;T | snv |
|
Immune System Diseases | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 102340888 | intron variant | C/T | snv | 0.18 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 |