rs10922094

This is a intron variant variant in the CFH gene.

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GWAS Catalog Trait Associations (4)

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

level of peptidyl-prolyl cis-trans isomerase H in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.97
p 3.0e-36
N 198
Small GWAS
European

level of UDP-glucuronosyltransferase 2B15 in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.65
p 1.0e-25
N 466
Small GWAS
African American or Afro-Caribbean

RING finger protein 215 measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.84
p 2.0e-21
N 193
Small GWAS
European

aspartyl/asparaginyl beta-hydroxylase measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.70
p 3.0e-14
N 199
Small GWAS
European
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Research that mentions this SNP (1)

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Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His
AssociationN=514Michael A. Grassi et al.(2006)· Human Mutation

This study documents ethnic variation in the CFH p.Tyr402His (rs1061170, c.1204T>C) polymorphism, a known AMD risk factor (OR ~2.5-4.6 in Caucasians). The risk allele C frequency varies widely across populations: Japanese 7%, Hispanic 17%, African American 35%, Caucasian 34%, and Somali 34%. The findings suggest additional genetic or protective factors beyond CFH contribute to the ethnic differences in AMD prevalence.

Traits studied:Age-related macular degeneration
PubMedDOIMetascience Observatory

About CFH

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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