rs7186908

This variant is located in the PMFBP1 gene.

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GWAS Catalog Trait Associations (1)

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

alkaline phosphatase measurement

Chambers JC et al. “Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.” Nature Genetics 43(11):1131-8 (2011)

Allele C

OR 2.00

p 5.0e-9

N 61,089

Large GWAS

multi-ancestry

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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