rs9913583
This is a regulatory region variant variant in the SERPINF1 gene.
▶ClinVar annotation
Osteogenesis Imperfecta, Recessive; Osteogenesis imperfecta (OI)
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetic Predictors of Response to Photodynamic TherapyReviewFrancesco Parmeggiani et al.(2011)· Molecular Diagnosis & Therapy
Comprehensive review evaluating SNPs as genetic predictors of choroidal neovascularization (CNV) response to photodynamic therapy with verteporfin (PDT-V). The paper examines pharmacogenetic correlations for thrombo-coagulative pathway variants (MTHFR rs1801133, F5 rs6025, F2 rs1799963, F13A1 rs5985), complement/inflammatory variants (CFH, HTRA1, CRP, ARMS2), and VEGFA variants (rs699947, rs2146323), concluding that specific SNPs show clinical plausibility as markers to optimize PDT-V efficacy and guide therapeutic approaches in neovascular macular degeneration.
About SERPINF1
This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
View all SERPINF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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