← Genclarus

rs1799983

NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)

NOS3missense variantp.Asp298Glusingle nucleotide variant
ClinVar by condition
  • Ischemic strokeBenign · ★★ · germline
  • Alzheimer disease type 1 (AD1)Benign · ★★ · germline
  • Preeclampsia/eclampsia 1 (PEE1)Benign · ★★ · germline
  • Essential hypertension, genetic (EHT)Benign · ★★ · germline
  • Metabolic syndrome, susceptibility toRisk factor · ★ · germline
  • Hypertension resistant to conventional therapyPathogenic · germline
  • Coronary artery spasm 1, susceptibility toRisk factor · germline
  • Alzheimer disease, late-onset, susceptibility toRisk factor · germline
  • Hypertension, pregnancy-induced, susceptibility toRisk factor · germline
  • Ischemic heart disease, susceptibility toRisk factor · germline
  • Ischemic strokeRisk factor · germline
  • not providedBenign · ★★ · germline

gnomAD allele frequency 7.63e-1

rs1799983 is a genetic variant located in the NOS3 gene. dbsnp · gene

In gnomAD, rs1799983 has an overall allele frequency of 76.3%. gnomad · frequency

In ClinVar, rs1799983 is classified as Benign for Ischemic stroke (2 review stars, germline; last evaluated 2023-04-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Benign for Alzheimer disease type 1 (AD1) (2 review stars, germline; last evaluated 2023-04-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Benign for Preeclampsia/eclampsia 1 (PEE1) (2 review stars, germline; last evaluated 2023-04-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Benign for Essential hypertension, genetic (EHT) (2 review stars, germline; last evaluated 2023-04-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Risk factor for Metabolic syndrome, susceptibility to (1 review star, germline; last evaluated 2017-06-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Pathogenic for Hypertension resistant to conventional therapy (0 review stars, germline; last evaluated 2007-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Risk factor for Coronary artery spasm 1, susceptibility to (0 review stars, germline; last evaluated 2007-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Risk factor for Alzheimer disease, late-onset, susceptibility to (0 review stars, germline; last evaluated 2007-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Risk factor for Hypertension, pregnancy-induced, susceptibility to (0 review stars, germline; last evaluated 2007-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Risk factor for Ischemic heart disease, susceptibility to (0 review stars, germline; last evaluated 2007-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Risk factor for Ischemic stroke (0 review stars, germline; last evaluated 2007-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Benign for not provided (2 review stars, germline; last evaluated 2021-05-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799983 is classified as Benign for not specified (1 review star, germline; last evaluated 2016-03-28). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 880ddb89f0305b07 · 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.