rs3842727
This variant is located in the TH gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 1 diabetes mellitus
Onengut-Gumuscu S et al. “Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score.” Diabetes Care 42(3):406-415 (2019)
Allele T
OR 1.53
p 1.0e-13
N 3,949
Large GWAS
African American or Afro-Caribbean
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]
View all TH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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