rs3790414
This variant is located in the CFHR2 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.
complement factor H-related protein 2 measurement
Cipriani V et al. “Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.” American Journal of Human Genetics 108(8):1385-1400 (2021)
Allele A
OR 1.54
p 3.0e-32
N 252
Small GWAS
European
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 A
OR 0.98
p 2.0e-29
N 416
Small GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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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