rs41310132

This variant is located in the CFHR2 gene.

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GWAS Catalog Trait Associations (1)

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

complement factor H-related protein 2 measurement

Lorés-Motta L et al. “Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.” American Journal of Human Genetics 108(8):1367-1384 (2021)

Allele G

OR 1.83

p 2.0e-10

N 416

Small GWAS

European

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ClinVar annotation

Likely Benign★★★☆

3 submitters3 publications

Atypical hemolytic-uremic syndrome; not provided; not specified

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About CFHR2

This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

View all CFHR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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