Variant (rsID / SNP)

rs121964918

rs121964918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFI. Location: chromosome 4, position 110,662,246. Clinical significance in the table: risk factor.

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Reference-table entries

CFIRisk factor

Clinical significance (as recorded): risk factor
Variant type: single nucleotide variant
Chromosome / position: 4:110662246
Cytoband: 4q25
HGVS: NM_000204.5(CFI):c.1555G>A (p.Asp519Asn)
Allele change: Missense_D527N

Associated conditions / phenotypes

Atypical hemolytic-uremic syndrome with I factor anomaly

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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