rs429358
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
- Alzheimer disease 4 (AD4)Pathogenic · ★ · unknown
- Alzheimer diseaseLikely pathogenic · ★ · germline
- Primary degenerative dementia of the Alzheimer type, presenile onsetRisk factor · ★ · germline
- Lipoprotein glomerulopathy (LPG)Uncertain significance · ★ · unknown
- Alzheimer disease 2 (AD2)Pathogenic · germline
- APOE4(-)-FREIBURGPathogenic · germline
- Familial type 3 hyperlipoproteinemiaPathogenic · germline
- Familial hypercholesterolemiaLikely pathogenic · germline
- Warfarin responseDrug response · unknown
- Familial type 3 hyperlipoproteinemianot provided · germline
- APOE5 VARIANTassociation · germline
- not providedConflicting interpretations · ★ · germline
gnomAD allele frequency 1.64e-1
rs429358 is a genetic variant located in the APOE gene. dbsnp · gene
In gnomAD, rs429358 has an overall allele frequency of 16.4%. gnomad · frequency
In ClinVar, rs429358 is classified as Pathogenic for Alzheimer disease 4 (AD4) (1 review star; last evaluated 2020-03-24). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs429358 is classified as Likely pathogenic for Alzheimer disease (1 review star, germline; last evaluated 2019-06-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as Risk factor for Primary degenerative dementia of the Alzheimer type, presenile onset (1 review star, germline; last evaluated 2019-01-16). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as Uncertain significance for Lipoprotein glomerulopathy (LPG) (1 review star; last evaluated 2019-01-01). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs429358 is classified as Pathogenic (risk factor) for Alzheimer disease 2 (AD2) (0 review stars, germline; last evaluated 2022-06-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as Pathogenic for APOE4(-)-FREIBURG (0 review stars, germline; last evaluated 2017-02-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as Pathogenic for Familial type 3 hyperlipoproteinemia (0 review stars, germline; last evaluated 1993-05-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as Likely pathogenic for Familial hypercholesterolemia (0 review stars, germline; last evaluated 2020-05-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as Drug response for Warfarin response (0 review stars; last evaluated 2010-08-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs429358 is classified as not provided for Familial type 3 hyperlipoproteinemia (0 review stars, germline; last evaluated 2023-06-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as association for APOE5 VARIANT (0 review stars, germline; last evaluated 2019-11-22). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as Conflicting interpretations (risk factor) for not provided (1 review star, germline; last evaluated 2024-10-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs429358 is classified as Uncertain significance for not specified (1 review star, germline; last evaluated 2019-01-18). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 552cf28386bab10f · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.