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Variant (rsID / SNP)

rs147403664

CFH

rs147403664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFH. Location: chromosome 1, position 196,684,751. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CFHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:196684751
Cytoband
1q31.3
HGVS
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)
Allele change
Missense_N516K

Associated conditions / phenotypes

Basal laminar drusen|Age related macular degeneration 4|Hemolytic uremic syndrome, atypical, susceptibility to, 1|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.