chr5:1392909:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr5:1,392,909-1,445,555
hg38 chr5:1,392,794-1,445,440 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 CNS disorder NA BeFree Detail
0.003 cocaine abuse NA BeFree,GAD Detail
0.007 Delirium NA BeFree,GAD Detail
0.003 delusional disorder NA BeFree,GAD Detail
<0.001 Presenile dementia NA BeFree Detail
0.024 Mental Depression Serotonin transporter (SERT) and dopamine transporter (DAT) levels differ in pat... BeFree,GAD 24439516 Detail
0.002 depressive disorder NA BeFree Detail
<0.001 Disruptive Behavior Disorder NA BeFree Detail
0.002 Drug abuse NA BeFree Detail
0.002 drug allergy NA GAD Detail
<0.001 Dwarfism NA BeFree Detail
0.001 Dyskinetic syndrome NA BeFree Detail
0.003 Eating Disorders NA BeFree,GAD Detail
<0.001 Extrapyramidal Disorders NA BeFree Detail
0.003 fibromyalgia NA BeFree,GAD Detail
0.080 Glioma NA RGD Detail
0.002 Growth Disorders NA GAD Detail
<0.001 Hallervorden-Spatz Syndrome NA BeFree Detail
0.002 Headache NA GAD Detail
0.006 heroin dependence NA BeFree,GAD Detail
<0.001 HIV Infections A short review on the relation between the dopamine transporter 10/10-repeat all... BeFree 24696011 Detail
<0.001 HIV Infections Sensitivity of DAT (ITMA-DAT) was high in Sudan (94%) and India (92.3%) but low ... BeFree 25734336 Detail
0.003 Hypersensitivity NA LHGDN Detail
0.080 Hypertensive disease NA RGD Detail
<0.001 Kidney Failure, Chronic Haplotype analysis showed that DAA and DAT haplotypes were risk factors for ESRD... BeFree 23477970 Detail
0.003 Leukodystrophy, Metachromatic NA LHGDN Detail
0.002 Liver Cirrhosis, Alcoholic NA GAD Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.002 Lymphoma, Non-Hodgkin NA GAD Detail
<0.001 Machado-Joseph disease NA BeFree Detail
0.002 Marijuana Abuse NA GAD Detail
0.120 Memory Disorders NA CTD_human Detail
<0.001 Movement Disorders NA BeFree Detail
0.120 Nerve Degeneration NA CTD_human Detail
0.120 nervous system disorder NA BeFree,CTD_human Detail
<0.001 neuroblastoma NA BeFree Detail
0.001 nicotine dependence Genetic influence of dopamine receptor, dopamine transporter, and nicotine metab... BeFree 25526961 Detail
0.006 obesity Association of VNTR polymorphisms in DRD4, 5-HTT and DAT1 genes with obesity. BeFree,GAD 25687785 Detail
0.083 obsessive-compulsive disorder NA BeFree,GAD,MGD Detail
0.002 opioid abuse NA GAD Detail
<0.001 oppositional defiant disorder NA BeFree Detail
<0.001 osteochondritis dissecans NA BeFree Detail
0.163 Parkinson disease The clinical diagnosis of Parkinson's Disease (PD) is not supported by Single Ph... BeFree,CTD_human,GAD,LHGDN 25182701 Detail
0.163 Parkinson disease These two with abnormal DAT imaging had a PD phenotype, while the remaining thre... BeFree,CTD_human,GAD,LHGDN 25634433 Detail
0.163 Parkinson disease Polymorphism of the dopamine transporter type 1 gene modifies the treatment resp... BeFree,CTD_human,GAD,LHGDN 25805645 Detail
0.163 Parkinson disease Here we show that SNCA transcripts in circulating blood cells are paradoxically ... BeFree,CTD_human,GAD,LHGDN 26220939 Detail
0.163 Parkinson disease Rs1109303 (T>G) variant within the INPP5K gene on chromosome 17p13.3 demonstrate... BeFree,CTD_human,GAD,LHGDN 26284320 Detail
0.005 Perceptual Disorders NA GAD Detail
<0.001 Phobia, Social NA BeFree Detail
<0.001 Pituitary Diseases NA BeFree Detail
<0.001 premature ejaculation NA BeFree Detail
0.005 Prenatal Exposure Delayed Effects NA GAD Detail
0.002 Psychoses, Alcoholic NA GAD Detail
0.122 Psychoses, Substance-Induced NA CTD_human,GAD Detail
0.006 Psychotic Disorders NA BeFree,GAD Detail
<0.001 Respiratory Tract Infections NA BeFree Detail
0.265 schizophrenia No association of SLC6A3 and SLC6A4 gene polymorphisms with schizophrenia in the... BeFree,CTD_human,GAD,LHGDN,MGD 25019689 Detail
0.001 Seizures NA BeFree Detail
<0.001 Shy-Drager Syndrome NA BeFree Detail
<0.001 stereotypic movement disorder NA BeFree Detail
0.004 post-traumatic stress disorder NA BeFree,GAD Detail
0.003 Stress Disorders, Traumatic NA LHGDN Detail
0.005 stuttering We proposed that stuttering candidate genes, DRD2 and SLC6A3, might be associate... BeFree,GAD 25178928 Detail
<0.001 substance dependence Due to the mechanism of action of the dopamine transporter (DAT) in drug addicti... BeFree 25247548 Detail
<0.001 Substance Use Disorders NA BeFree Detail
0.003 sudden infant death syndrome NA BeFree,GAD Detail
0.120 tic disorder NA CTD_human Detail
0.007 Tobacco use disorder NA GAD Detail
0.094 Gilles de la Tourette syndrome NA BeFree,GAD,LHGDN,MGD Detail
<0.001 Uncomplicated alcohol withdrawal NA BeFree Detail
0.003 Attention Deficit Disorder NA BeFree,GAD Detail
0.001 Unipolar Depression The aim of this study was to examine the availabilities of midbrain SERT and str... BeFree 24439516 Detail
<0.001 Violence NA BeFree Detail
0.002 Weight Gain NA GAD Detail
0.009 Alcohol abuse NA GAD Detail
<0.001 Depressive Symptoms NA BeFree Detail
<0.001 Withdrawal Symptoms NA BeFree Detail
0.001 conduct disorder NA BeFree Detail
0.006 Migraine Disorders NA BeFree,GAD Detail
0.003 lingual-facial-buccal dyskinesia NA BeFree,GAD Detail
0.003 migraine with aura NA BeFree,GAD Detail
<0.001 Angelman syndrome NA BeFree Detail
<0.001 Chronic schizophrenia NA BeFree Detail
<0.001 Psychological symptom NA BeFree Detail
<0.001 Antisocial behavior NA BeFree Detail
<0.001 Hallucinations, Auditory NA BeFree Detail
<0.001 Hallucinations, Visual NA BeFree Detail
0.005 Personality Traits NA GAD Detail
0.001 Extrapyramidal sign NA BeFree Detail
<0.001 Ataxic NA BeFree Detail
0.010 Alcohol withdrawal syndrome NA BeFree,GAD Detail
0.120 Amphetamine-Related Disorders NA CTD_human Detail
0.125 Cocaine-Related Disorders NA CTD_human,GAD Detail
<0.001 Amphetamine Addiction The dopamine transporter gene may not contribute to susceptibility and the speci... BeFree 25683821 Detail
0.005 Substance-Related Disorders NA GAD Detail
<0.001 Alcohol or Other Drugs use NA BeFree Detail
0.002 Physiological Sexual Disorders NA GAD Detail
<0.001 Xanthomatosis, Cerebrotendinous NA BeFree Detail
<0.001 Erectile dysfunction NA BeFree Detail
0.012 Malignant neoplasm of lung NA BeFree,GAD Detail
0.084 Parkinsonian Disorders NA BeFree,RGD Detail
<0.001 anxiety generalized NA BeFree Detail
<0.001 Severe major depression with psychotic features NA BeFree Detail
<0.001 generalized anxiety disorder Lack of influence of DAT1 and DRD2 gene variants on antidepressant response in g... BeFree 24723432 Detail
<0.001 Warm autoimmune hemolytic anemia NA BeFree Detail
<0.001 Expressed Emotion The differential susceptibility theory was examined by investigating the presenc... BeFree 24929324 Detail
0.002 Atrophic NA GAD Detail
<0.001 Impaired cognition NA BeFree Detail
<0.001 Manic NA BeFree Detail
<0.001 Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type NA BeFree Detail
<0.001 Nonorganic psychosis NA BeFree Detail
<0.001 multiple system atrophy NA BeFree Detail
<0.001 Dystonia, Diurnal These two with abnormal DAT imaging had a PD phenotype, while the remaining thre... BeFree 25634433 Detail
0.002 Inattention NA BeFree Detail
0.122 Hyperactive behavior NA CTD_human,GAD Detail
<0.001 Motor symptoms The SLC6A3 variants were also associated with greater efficacy of methylphenidat... BeFree 25805645 Detail
0.002 Disruptive Behavior NA GAD Detail
<0.001 dyslexia We proposed that stuttering candidate genes, DRD2 and SLC6A3, might be associate... BeFree 25178928 Detail
0.121 dementia NA BeFree,CTD_human Detail
<0.001 Overweight NA BeFree Detail
<0.001 Neurodegenerative Disorders NA BeFree Detail
<0.001 Mood Disorders NA BeFree Detail
0.003 Alcohol Withdrawal Seizures NA BeFree,GAD Detail
0.124 Anxiety Disorders Interaction between BDNF Val66Met and dopamine transporter gene variation influe... BeFree 17392738 Detail
<0.001 Violence The objective of the present study was to identify, in a case-control study, whe... BeFree 21491204 Detail
0.005 Heroin Abuse NA GAD Detail
0.001 cocaine dependence NA BeFree Detail
<0.001 Emotional problems NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 Tardive Dyskinesia NA BeFree Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 Substance abuse problem NA BeFree Detail
<0.001 Depression, psychotic NA BeFree Detail
<0.001 spinocerebellar ataxia type 2 NA BeFree Detail
<0.001 Chronic Daily Headache NA BeFree Detail
0.003 Lewy Body Disease NA BeFree,LHGDN Detail
<0.001 Schizophrenia and related disorders NA BeFree Detail
<0.001 bipolar I disorder NA BeFree Detail
0.002 Appetite suppression (finding) NA GAD Detail
<0.001 Psychotic symptom NA BeFree Detail
0.002 traumatic brain injury NA GAD Detail
<0.001 Developmental reading disorder Stuttering candidate genes DRD2 but not SLC6A3 is associated with developmental ... BeFree 25178928 Detail
0.003 Malignant neoplasm of ovary NA BeFree,GAD Detail
0.004 major depressive disorder The aim of this study was to examine the availabilities of midbrain SERT and str... BeFree,GAD 24439516 Detail
<0.001 autoimmune lymphoproliferative syndrome NA BeFree Detail
<0.001 Attention deficit-hyperactivity NA BeFree Detail
0.120 Micronuclei, Chromosome-Defective NA CTD_human Detail
0.005 Methamphetamine abuse NA GAD Detail
0.120 Paranoia NA BeFree,CTD_human Detail
<0.001 drug dependence Due to the mechanism of action of the dopamine transporter (DAT) in drug addicti... BeFree 25247548 Detail
<0.001 MAJOR AFFECTIVE DISORDER 2 NA BeFree Detail
<0.001 NEUROTICISM Further analyses showed that the DAT availability was correlated with the neurot... BeFree 25001970 Detail
<0.001 Dopa-responsive dystonia These two with abnormal DAT imaging had a PD phenotype, while the remaining thre... BeFree 25634433 Detail
<0.001 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT NA BeFree Detail
0.121 MAJOR AFFECTIVE DISORDER 1 NA BeFree,CTD_human Detail
0.120 TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) NA CTD_human Detail
<0.001 AMYOTROPHIC LATERAL SCLEROSIS 1 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 4 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 5 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 6 NA BeFree Detail
<0.001 bulimia nervosa NA BeFree Detail
<0.001 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) NA BeFree Detail
<0.001 Major affective disorder 7 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 8 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 9 NA BeFree Detail
<0.001 Executive dysfunction NA BeFree Detail
0.002 Weight Gain Adverse Event NA GAD Detail
0.002 Finding relating to sexuality and sexual activity NA GAD Detail
<0.001 Undifferentiated attention deficit disorder NA BeFree Detail
0.002 Opium abuse NA GAD Detail
0.004 Alcohol Withdrawal Delirium NA BeFree,GAD Detail
0.035 Alcoholic Intoxication, Chronic The present study aimed to evaluate the association of alcohol dependence and al... BeFree,GAD 25035107 Detail
0.035 Alcoholic Intoxication, Chronic Association study of the SLC6A3 VNTR (DAT) and DRD2/ANKK1 Taq1A polymorphisms wi... BeFree,GAD 25684044 Detail
0.035 Alcoholic Intoxication, Chronic A 40-bp VNTR polymorphism in the 3'-untranslated region of DAT1/SLC6A3 is associ... BeFree,GAD 26058807 Detail
0.011 Alzheimer's disease Abnormal expression and genetic polymorphism of SLC6A3 and SLC6A4 genes may incr... BeFree,GAD,LHGDN 25019689 Detail
0.011 Alzheimer's disease Association between the 9 repeat allele of the dopamine transporter 40bp variabl... BeFree,GAD,LHGDN 25130782 Detail
0.011 Alzheimer's disease Sensitivity of DAT (ITMA-DAT) was high in Sudan (94%) and India (92.3%) but low ... BeFree,GAD,LHGDN 25734336 Detail
<0.001 amyotrophic lateral sclerosis NA BeFree Detail
<0.001 Anemia, Hemolytic NA BeFree Detail
<0.001 anorexia nervosa NA BeFree Detail
0.002 antisocial personality disorder NA GAD Detail
0.002 Anxiety NA GAD Detail
0.124 Anxiety Disorders NA BeFree,CTD_human,GAD Detail
0.017 As If Personality NA GAD Detail
<0.001 Ataxia NA BeFree Detail
0.002 Behavior Disorders NA GAD Detail
0.002 Malignant neoplasm of urinary bladder NA GAD Detail
0.002 Malignant neoplasm of breast NA GAD Detail
0.003 Bulimia NA BeFree,GAD Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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Serotonin transporter (SERT) and dopamine transporter (DAT) levels differ in patients with major dep... DisGeNET Detail
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A short review on the relation between the dopamine transporter 10/10-repeat allele and ADHD: implic... DisGeNET Detail
Sensitivity of DAT (ITMA-DAT) was high in Sudan (94%) and India (92.3%) but low in France being 88.5... DisGeNET Detail
NA DisGeNET Detail
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Haplotype analysis showed that DAA and DAT haplotypes were risk factors for ESRD. DisGeNET Detail
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Genetic influence of dopamine receptor, dopamine transporter, and nicotine metabolism on smoking ces... DisGeNET Detail
Association of VNTR polymorphisms in DRD4, 5-HTT and DAT1 genes with obesity. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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The clinical diagnosis of Parkinson's Disease (PD) is not supported by Single Photon Emission Comput... DisGeNET Detail
These two with abnormal DAT imaging had a PD phenotype, while the remaining three subjects with the ... DisGeNET Detail
Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson's ... DisGeNET Detail
Here we show that SNCA transcripts in circulating blood cells are paradoxically reduced in early sta... DisGeNET Detail
Rs1109303 (T>G) variant within the INPP5K gene on chromosome 17p13.3 demonstrated a genome-wide sign... DisGeNET Detail
NA DisGeNET Detail
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No association of SLC6A3 and SLC6A4 gene polymorphisms with schizophrenia in the Han Chinese populat... DisGeNET Detail
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We proposed that stuttering candidate genes, DRD2 and SLC6A3, might be associated with dyslexia. DisGeNET Detail
Due to the mechanism of action of the dopamine transporter (DAT) in drug addiction, the DAT1 gene is... DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
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The aim of this study was to examine the availabilities of midbrain SERT and striatal DAT in healthy... DisGeNET Detail
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The dopamine transporter gene may not contribute to susceptibility and the specific personality trai... DisGeNET Detail
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Lack of influence of DAT1 and DRD2 gene variants on antidepressant response in generalized anxiety d... DisGeNET Detail
NA DisGeNET Detail
The differential susceptibility theory was examined by investigating the presence of interaction eff... DisGeNET Detail
NA DisGeNET Detail
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These two with abnormal DAT imaging had a PD phenotype, while the remaining three subjects with the ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The SLC6A3 variants were also associated with greater efficacy of methylphenidate for motor symptoms... DisGeNET Detail
NA DisGeNET Detail
We proposed that stuttering candidate genes, DRD2 and SLC6A3, might be associated with dyslexia. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
Interaction between BDNF Val66Met and dopamine transporter gene variation influences anxiety-related... DisGeNET Detail
The objective of the present study was to identify, in a case-control study, whether the brain-deriv... DisGeNET Detail
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Stuttering candidate genes DRD2 but not SLC6A3 is associated with developmental dyslexia in Chinese ... DisGeNET Detail
NA DisGeNET Detail
The aim of this study was to examine the availabilities of midbrain SERT and striatal DAT in healthy... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Due to the mechanism of action of the dopamine transporter (DAT) in drug addiction, the DAT1 gene is... DisGeNET Detail
NA DisGeNET Detail
Further analyses showed that the DAT availability was correlated with the neuroticism score only in ... DisGeNET Detail
These two with abnormal DAT imaging had a PD phenotype, while the remaining three subjects with the ... DisGeNET Detail
NA DisGeNET Detail
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The present study aimed to evaluate the association of alcohol dependence and alcohol dependence-rel... DisGeNET Detail
Association study of the SLC6A3 VNTR (DAT) and DRD2/ANKK1 Taq1A polymorphisms with alcohol dependenc... DisGeNET Detail
A 40-bp VNTR polymorphism in the 3'-untranslated region of DAT1/SLC6A3 is associated with ADHD but n... DisGeNET Detail
Abnormal expression and genetic polymorphism of SLC6A3 and SLC6A4 genes may increase the risk of dev... DisGeNET Detail
Association between the 9 repeat allele of the dopamine transporter 40bp variable tandem repeat poly... DisGeNET Detail
Sensitivity of DAT (ITMA-DAT) was high in Sudan (94%) and India (92.3%) but low in France being 88.5... DisGeNET Detail
NA DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386602118 dbSNP
Genome
hg19
Position
chr5:1,392,909-1,445,555
Variant Type
snv
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