Variant (rsID / SNP)

rs769452

rs769452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOE. Location: chromosome 19, position 45,411,110. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

APOEConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:45411110
Cytoband: 19q13.32
HGVS: NM_000041.4(APOE):c.137T>C (p.Leu46Pro)
Allele change: Missense_L46P

Associated conditions / phenotypes

Alzheimer disease 4

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.