rs7629500

This variant is located in the VHL gene.

▶

GWAS Catalog Trait Associations (2)

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

clear cell renal carcinoma

Purdue MP et al. “Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.” Nature Genetics 56(5):809-818 (2024)

Allele A

OR 2.72

p 1.0e-23

N 759,800

Large GWAS

multi-ancestry

renal carcinoma

Purdue MP et al. “Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.” Nature Genetics 56(5):809-818 (2024)

Allele A

OR 1.86

p 2.0e-13

N 864,690

Large GWAS

multi-ancestry

▶

ClinVar annotation

Likely Benign★☆☆☆

1 submitter

Von Hippel-Lindau syndrome

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene

FunctionalRajasekaran R. et al.(2008)· Mammalian Genome

Computational analysis of 110 SNPs in the VHL gene identified 33 nonsynonymous SNPs (nsSNPs) and 23 untranslated region SNPs. Using SIFT and PolyPhen prediction tools, 12 nsSNPs were found to be deleterious; rs5030812 (H115R) showed the highest predicted deleterious impact with SIFT tolerance index 0.00, PolyPhen PSIC score 2.532, and RMSD of 2.78 Å in structural modeling, making it a candidate causative variant for von Hippel-Lindau syndrome.

Traits studied:HemangioblastomaPheochromocytomaRenal cell carcinomaVon Hippel-Lindau syndrome

PubMed DOI Metascience Observatory

About VHL

This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]