ALDH18A1, aldehyde dehydrogenase 18 family member A1, 5832
N. diseases: 206; N. variants: 22
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.280 | 10 | 95606800 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 4 | 2000 | 2014 | ||||||||
|
1.000 | 0.160 | 10 | 95633040 | missense variant | C/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
1.000 | 0.080 | 10 | 95626722 | missense variant | G/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 10 | 95636713 | intron variant | A/C | snv | 0.28 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 10 | 95613755 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.280 | 10 | 95633026 | frameshift variant | A/- | del |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.280 | 10 | 95643118 | frameshift variant | C/- | del |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.280 | 10 | 95610272 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.280 | 10 | 95613741 | splice donor variant | C/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 10 | 95637381 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 10 | 95637328 | missense variant | G/A | snv |
|
0.800 | 0 | |||||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
0.800 | 0 | ||||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 |