rs60201663

This variant is located in the PMFBP1 gene.

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GWAS Catalog Trait Associations (4)

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

hyperlipidemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.20
p 1.0e-31
N 114,081
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

metabolic disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.20
p 1.0e-31
N 114,061
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

Hypercholesterolemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.15
p 1.0e-13
N 112,891
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

triglyceride measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele A
OR 0.03
p 3.0e-11
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

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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