rs190166981

This variant is located in the CFHR1 gene.

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GWAS Catalog Trait Associations (1)

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

level of coagulation factor XIII B chain in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.37

p 5.0e-18

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

View on ClinVar →

About CFHR1

This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]

View all CFHR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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