rs12273363

This variant is located in the BDNF gene.

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GWAS Catalog Trait Associations (9)

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

bowel opening frequency

Díaz-Muñoz C et al. “Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility.” Gut (2026)
Allele C
OR 0.03
p 6.0e-23
N 167,966
Large GWAS
European
Bonfiglio F et al. “GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome.” Cell Genomics 1(3):None (2021)
Allele C
OR 0.03
p 5.0e-21
N 167,875
Large GWAS
European

cholesteryl esters in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 3.0e-16
N 450,015
Large GWAS
multi-ancestry

apolipoprotein A 1 measurement

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele T
OR 0.02
p 4.0e-16
N 393,193
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 7.0e-16
N 394,642
Large GWAS
European

cholesterol in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 4.0e-16
N 450,015
Large GWAS
multi-ancestry

free cholesterol in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 9.0e-15
N 450,015
Large GWAS
multi-ancestry

concentration of medium HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 7.0e-13
N 450,015
Large GWAS
multi-ancestry

phospholipids in HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

bone tissue density

Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele C
OR 0.07
p 3.0e-12
N 31,986
Large GWAS
European
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Research that mentions this SNP (2)

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No association of genetic variants in BDNF with major depression: A meta‐ and gene‐based analysis
Meta-analysisJoseph P. Gyekis et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Meta-analysis of 28 studies (range 38-7,173 participants) found no significant association between BDNF genetic variants and major depressive disorder. Val66Met (rs6265) showed OR=0.96 (95% CI: 0.89-1.05; P=0.402), and gene-based analysis of 17 total BDNF SNPs indicated no cumulative association with MDD (all P>0.21).

Traits studied:Major depressive disorder
PubMedDOIMetascience Observatory
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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
PubMedDOIMetascience Observatory

About BDNF

This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]

View all BDNF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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