rs2295778
This is a protein-altering variant in the HIF1AN gene.
▶Research that mentions this SNP (1)
▶Interactions between environmental factors and polymorphisms in angiogenesis pathway genes in esophageal adenocarcinoma risk: A case‐only studyAssociationN=335Rihong Zhai et al.(2012)· Cancer
Case-only study of 335 esophageal adenocarcinoma (EA) patients examining gene-environment interactions in angiogenesis pathway genes. Identified significant interactions between SNPs in HIF1AN, TSC2, VEGFR1, PDGFRA, and PDGFRB with GERD, smoking, and BMI. Notable findings include rs2295778 (HIF1AN)-GERD with OR=2.23 (p=0.0005) and dose-response effects with cumulative risk genotypes (OR=12.07 for >5 risk genotypes vs BMI≥25).
About HIF1AN
Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in negative regulation of Notch signaling pathway and positive regulation of myoblast differentiation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all HIF1AN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…