rs2782643

This variant is located in the SZT2 gene.

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GWAS Catalog Trait Associations (5)

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 0.11
p 2.0e-14
N 1,164,961
Meta-analysisLarge GWAS
European

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR —
β 0.015
p 2.0e-11
N 684,122
Large GWAS
European

hypertension

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 6.41
p 1.0e-10
N 1,164,961
Meta-analysisLarge GWAS
European

body weight

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 T
OR 0.01
p 1.0e-9
N 928,679
Large GWAS
multi-ancestry

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 0.21
p 3.0e-14
N 810,865
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★★★☆
8 submitters3 publications

not specified; not provided; Developmental and epileptic encephalopathy, 18; Inborn genetic diseases

View on ClinVar →

About SZT2

The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]

View all SZT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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