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Gene entry

CFH

complement factor H

Chromosome
1
Cytoband
1q31.3
Variants (rsID)
33

CFH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q31.3). Its official name is “complement factor H”. The reference table lists 33 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs1061147Benignsingle nucleotide variantAge related macular degeneration 4|Basal laminar drusen|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II|Hemolytic uremic syndrome, atypical, susceptibility to, 1|Factor H deficiency
  • rs800292Benignsingle nucleotide variantAge related macular degeneration 4|Basal laminar drusen|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II|Hemolytic uremic syndrome, atypical, susceptibility to, 1|Factor H deficiency
  • rs147403664Conflicting interpretationssingle nucleotide variantBasal laminar drusen|Age related macular degeneration 4|Hemolytic uremic syndrome, atypical, susceptibility to, 1|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
  • rs121913056Pathogenicsingle nucleotide variantFactor H deficiency
  • rs121913058Pathogenicsingle nucleotide variantFactor H deficiency
  • rs1410996Risk factorsingle nucleotide variantAge related macular degeneration 4

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.