HGSNAT, heparan-alpha-glucosaminide N-acetyltransferase, 138050
N. diseases: 108; N. variants: 41
Source: ALL
| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 43197027 | splice region variant | -/A | delins | 4.0E-06; 1.2E-05 | 1.4E-05 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 8 | 43140504 | frameshift variant | -/CG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 8 | 43192397 | frameshift variant | -/G | delins | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 8 | 43192397 | frameshift variant | -/G | delins | 8.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 8 | 43161468 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 8 | 43170690 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.925 | 0.120 | 8 | 43170690 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||||
|
1.000 | 0.120 | 8 | 43173728 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 43178072 | splice acceptor variant | A/C | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 8 | 43158921 | splice acceptor variant | A/G | snv | 2.5E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||||
|
0.925 | 0.120 | 8 | 43158921 | splice acceptor variant | A/G | snv | 2.5E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||||
|
1.000 | 0.120 | 8 | 43172308 | splice acceptor variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 8 | 43158710 | missense variant | A/T | snv | 2.1E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.120 | 8 | 43197838 | splice acceptor variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 43191472 | splice acceptor variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 8 | 43178109 | stop gained | C/A;T | snv | 1.3E-04 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 8 | 43178109 | stop gained | C/A;T | snv | 1.3E-04 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 8 | 43197900 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.882 | 0.120 | 8 | 43191495 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2006 | 2008 | |||||||
|
0.882 | 0.120 | 8 | 43191495 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2006 | 2013 | |||||||
|
0.882 | 0.120 | 8 | 43191495 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 2 | 2006 | 2013 | ||||||||
|
0.925 | 0.120 | 8 | 43182162 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2006 | 2011 | |||||||
|
0.925 | 0.120 | 8 | 43182162 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2006 | 2011 | ||||||
|
0.925 | 0.120 | 8 | 43197848 | missense variant | C/T | snv | 1.3E-04 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2006 | 2010 | ||||||
|
0.925 | 0.120 | 8 | 43197848 | missense variant | C/T | snv | 1.3E-04 | 3.5E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2010 |