rs62053262

This is a regulatory region variant variant in the WWP2 gene.

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GWAS Catalog Trait Associations (8)

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

ascending aorta diameter

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele C
OR 0.19
p 7.0e-44
N 38,372
Large GWAS
European, NR
Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)
Allele C
OR 0.18
p 3.0e-35
N 33,637
Large GWAS
European

aortic measurement

Francis CM et al. “Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.” Nature Communications 13(1):4505 (2022)
Allele C
OR 34.53
p 5.0e-38
N 32,590
Large GWAS
European
Tcheandjieu C et al. “High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease.” Nature Genetics 54(6):772-782 (2022)
Allele C
OR 0.16
p 1.0e-23
N 32,215
Large GWAS
European
Benjamins JW et al. “Genomic insights in ascending aortic size and distensibility.” Ebiomedicine 75:103783 (2022)
Allele C
OR 0.20
p 8.0e-33
N 31,908
Large GWAS

systolic blood pressure

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.08
p 8.0e-37
N 425,740
Major Consortium StudyLarge GWAS
European

pulse pressure measurement

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele G
OR 0.78
p 1.0e-33
N 459,777
Large GWAS
multi-ancestry

diastolic blood pressure change measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 3.0e-14
N 425,743
Major Consortium StudyLarge GWAS
European

atherosclerosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.20
p 5.0e-13
N 438,039
Major Consortium StudyLarge GWAS
European

descending aorta diameter

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele C
OR 0.09
p 1.0e-12
N 39,893
Large GWAS
European, NR
Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)
Allele C
OR —
β 0.087
p 4.0e-12
N 39,688
Large GWAS
European

aorta size trait

Basty N et al. “Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture.” Communications Medicine 6(1):70 (2026)
Allele G
OR 0.10
p 3.0e-9
N 35,492
Large GWAS
European

About WWP2

This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]

View all WWP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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