SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 373; N. variants: 38
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607068
rs267607068
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C4747621
Disease:
PARKINSONISM-DYSTONIA, INFANTILE, 1 		0.800 GeneticVariation UNIPROT Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 19478460 2009
dbSNP: rs267607069
rs267607069
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C4747621
Disease:
PARKINSONISM-DYSTONIA, INFANTILE, 1 		0.800 GeneticVariation UNIPROT Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 19478460 2009
dbSNP: rs267607068
rs267607068
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C4747621
Disease:
PARKINSONISM-DYSTONIA, INFANTILE, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607069
rs267607069
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C4747621
Disease:
PARKINSONISM-DYSTONIA, INFANTILE, 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs365663
rs365663
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0424574
Disease:
Duration of sleep 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. 30846698 2019
dbSNP: rs365663
rs365663
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0424574
Disease:
Duration of sleep 		G 0.700 GeneticVariation GWASCAT Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways. 30804565 2019
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0036439
Disease:
Scoliosis, unspecified 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0034372
Disease:
Quadriplegia 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0080174
Disease:
Spina Bifida Occulta 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0009952
Disease:
Febrile Convulsions 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C4747621
Disease:
PARKINSONISM-DYSTONIA, INFANTILE, 1 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C2315100
Disease:
Pediatric failure to thrive 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0234133
Disease:
Extrapyramidal sign 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905504
rs431905504
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C1328407
Disease:
Hip Dysplasia 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs431905514
rs431905514
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C4747621
Disease:
PARKINSONISM-DYSTONIA, INFANTILE, 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs431905514
rs431905514
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C2751067
Disease:
Parkinsonism-Dystonia, Infantile 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs431905515
rs431905515
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C4747621
Disease:
PARKINSONISM-DYSTONIA, INFANTILE, 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs431905516
rs431905516
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C4747621
Disease:
PARKINSONISM-DYSTONIA, INFANTILE, 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs760871529
rs760871529
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT
dbSNP: rs28364997
rs28364997
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		0.050 GeneticVariation BEFREE In keeping with studies suggesting dopaminergic contributions to attention-deficit hyperactivity disorder (ADHD), bipolar disorder (BPD) and autism spectrum disorder (ASD), subjects with these diagnoses have been found to express a rare, functional coding substitution in the dopamine (DA) transporter (DAT), Ala559Val. 28964912 2018
dbSNP: rs28364997
rs28364997
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		0.050 GeneticVariation BEFREE Recently, we identified a rare, functional DA transporter (DAT, SLC6A3) coding substitution, Ala559Val, in subjects with attention-deficit/hyperactivity disorder (ADHD), demonstrating that DAT Val559 imparts anomalous DA efflux (ADE) with attendant physiological, pharmacological, and behavioral phenotypes. 29281965 2017
dbSNP: rs28364997
rs28364997
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		0.050 GeneticVariation BEFREE Recently, we identified a rare, nonsynonymous Slc6a3 variant that produces the DAT substitution Ala559Val in two male siblings who share a diagnosis of attention-deficit hyperactivity disorder (ADHD), with other studies identifying the variant in subjects with bipolar disorder (BPD) and autism spectrum disorder (ASD). 25331903 2014
dbSNP: rs28364997
rs28364997
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		0.050 GeneticVariation BEFREE Although hDAT A559V is a rare variant, it has been found in multiple probands with neuropsychiatric disorders associated with imbalances in DA neurotransmission, including ADHD, bipolar disorder, and now ASD. 25313507 2014
dbSNP: rs28364997
rs28364997
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		0.050 GeneticVariation BEFREE A559V was identified in two Caucasian male siblings with ADHD and both subjects were homozygous for the ADHD-associated, 10-repeat 3'VNTR allele. 16171832 2005