rs10770140

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

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GWAS Catalog Trait Associations (2)

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

periodontitis

Yu YH et al. “Candidate loci shared among periodontal disease, diabetes and bone density.” Frontiers in Endocrinology 13:1016373 (2022)

Allele T

OR 0.02

p 8.0e-10

N 506,596

Large GWAS

type 1 diabetes mellitus

Michalek DA et al. “A multi-ancestry genome-wide association study in type 1 diabetes.” Human Molecular Genetics 33(11):958-968 (2024)

Allele T

OR 0.52

p 1.0e-9

N 1,199

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

Autosomal recessive DOPA responsive dystonia

View on ClinVar →

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]