rs1061170
rs1061170 is a missense variant in CFH (complement factor H) causing a tyrosine-to-histidine substitution at codon 402 (Tyr402His), which alters how this complement-regulatory protein binds C-reactive protein, heparin, and cell-surface glycosaminoglycans in the retina. The 402His allele impairs the protein's ability to restrain complement activation, promoting chronic low-grade inflammation linked to drusen formation and progression to age-related macular degeneration; CFH variation at this site explains a substantial share of AMD heritability. Combined with the ARMS2/HTRA1 variant rs10490924, it is one of the two strongest common-variant contributors used to estimate AMD risk.
Traits rs1061170 reads
Gene
Reference databases
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