Variant (rsID / SNP)
rs1061147
rs1061147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFH. Location: chromosome 1, position 196,654,324. Clinical significance in the table: Benign.
Reference-table entries
CFHBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:196654324
- Cytoband
- 1q31.3
- HGVS
- NM_000186.4(CFH):c.921A>C (p.Ala307=)
- Allele change
- Synonymous_A307A
Associated conditions / phenotypes
Age 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.