rs1136287

This is a variant in the SERPINF1 gene that changes a threonine to an methionine.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.02

p 8.0e-158

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)

Allele T

OR 0.37

p 5.0e-49

N 3,200

Large GWAS

European

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ClinVar annotation

Benign★★★☆

11 submitters2 publications

Osteogenesis imperfecta (OI); Osteogenesis imperfecta type 6; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic Predictors of Response to Photodynamic Therapy

ReviewFrancesco 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.

Traits studied:Age-related macular degeneration (AMD)Choroidal neovascularization (CNV)Neovascular macular degenerationPathologic myopia (PM)Photodynamic therapy response

DOI Metascience Observatory

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]