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 | 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 | 95628405 | missense variant | G/A | snv | 0.11 | 0.10 |
|
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 | 95606856 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
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 | 10 | 95610260 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 |
|
0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 95606919 | missense variant | G/A;C | snv | 8.0E-06; 5.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.280 | 10 | 95621225 | missense variant | G/A | snv | 8.8E-05 |
|
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 | 95611372 | missense variant | C/A;T | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 0 | ||||||||||
|
1.000 | 0.280 | 10 | 95606805 | missense variant | T/C;G | snv | 8.4E-05; 8.0E-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 | 0.800 | 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 | |||||||||||
|
0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv |
|
Eye Diseases | 0.700 | 0 |