rs2070762

This is a upstream gene variant variant in the TH gene.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body height

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele G

OR 0.03

p 6.0e-34

N 153,950

Large GWAS

East Asian

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.02

p 3.0e-33

N 165,056

Large GWAS

East Asian

▶

ClinVar annotation

Benign★★★☆

4 submitters2 publications

Autosomal recessive DOPA responsive dystonia

View on ClinVar →

▶

Research that mentions this SNP (2)

▶

New genetic evidence for involvement of the dopamine system in migraine with aura

AssociationN=1,300Unda Todt et al.(2009)· Human Genetics

This case-control association study of 650 German migraine with aura (MA) patients and 650 controls tested 53 variants across 10 dopaminergic system genes. Three SNPs in the dopamine-beta hydroxylase (DBH), dopamine transporter (SLC6A3), and dopamine D2 receptor (DRD2) genes showed significant associations with MA. After gene-wide correction, rs2097629 in DBH (OR=0.77, p=0.0012) and rs40184 in SLC6A3 (OR=0.81, p=0.0082) remained significant, with supporting evidence from 2,937 British controls. These findings provide genetic evidence for dopaminergic system involvement in MA pathogenesis.

Traits studied:MigraineMigraine with aura

PubMed DOI Metascience Observatory

▶

Examination of association to autism of common genetic variationin genes related to dopamine

AssociationN=403Anderson BM et al.(2008)· Autism Research

This association study examined 28 SNPs across 14 dopamine pathway candidate genes in 403 families with autism to test the hypothesis that common genetic variation in dopamine metabolism contributes to autism susceptibility. While rs2239535 (YWHAB, chromosome 20) showed the strongest nominally significant association (p=0.008), this did not remain significant after correction for multiple comparisons, and no significant gene-gene interactions were detected using Multifactor Dimensionality Reduction analysis.

Traits studied:AutismAutism Spectrum Disorder (ASD)

PubMed DOI Metascience Observatory

About TH

The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]