rs2306899

This variant is located in the DDHD2 gene.

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GWAS Catalog Trait Associations (5)

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

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 0.23
p 9.0e-21
N 1,164,961
Meta-analysisLarge GWAS
European

urate measurement

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 0.02
p 3.0e-13
N 630,117
Large GWAS
European
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele T
OR 0.02
p 1.0e-10
N 677,373
Meta-analysisLarge GWAS
European
Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)
Allele T
OR 0.01
p 2.0e-12
N 454,183
Meta-analysisLarge 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 7.21
p 6.0e-13
N 1,164,961
Meta-analysisLarge GWAS
European

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 0.13
p 3.0e-11
N 810,865
Meta-analysisLarge GWAS
European

pulse pressure measurement

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 0.14
p 1.0e-11
N 810,865
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★★★☆
9 submitters2 publications

not specified; Hereditary spastic paraplegia 54; not provided; Hereditary spastic paraplegia

View on ClinVar →

About DDHD2

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

View all DDHD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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