rs200435297
This variant is located in the PMFBP1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
total cholesterol measurement
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele C
OR 2.28
p 7.0e-13
N 58,701
Large GWAS
East Asian
About PMFBP1
Involved in spermatogenesis. Located in sperm head-tail coupling apparatus. Implicated in spermatogenic failure 31. [provided by Alliance of Genome Resources, Jul 2025]
View all PMFBP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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