rs3826609

This variant is located in the TSHZ1 gene.

▶

GWAS Catalog Trait Associations (2)

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

diastolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)

Allele T

OR 0.09

p 7.0e-10

N 1,164,961

Meta-analysisLarge GWAS

European

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)

Allele T

OR 0.17

p 2.0e-8

N 810,865

Meta-analysisLarge GWAS

European

▶

ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; TSHZ1-related disorder

View on ClinVar →

About TSHZ1

This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]