rs55679337

This variant is located in the TSHZ1 gene.

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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 0.10

p 3.0e-11

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 4.0e-9

N 810,865

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

4 submitters1 publication

not specified; Aural atresia, congenital; not provided

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]