Orviva

Learn · Variants · CFH

rs1061170 CFH

Significantly increased risk for age-related macular degeneration (AMD). CFH Y402H variant.

Curated · human-reviewed Health risk · Risk / effect allele: C · dbSNP

What is rs1061170?

rs1061170 is a single-nucleotide polymorphism (SNP) in the CFH gene (Complement factor H). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as CC. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1061170 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
CCelevatedSignificantly increased risk for age-related macular degeneration (AMD). CFH Y402H variant.90%
TC / CTslightly elevatedModerately increased AMD risk with one copy of CFH variant.87%
TTtypical / lowerTypical risk for AMD.90%

How common is the C allele of rs1061170?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European34.0%
East Asian7.0%
African14.0%
South Asian20.0%
Admixed American24.0%
Global22.0%

Which drugs have annotations for rs1061170?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
bevacizumabDosage, Efficacy3
Photodynamic therapyDosage, Efficacy3
ranibizumabDosage, Efficacy3

Is rs1061170 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.