rs2066844
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)
- Autoinflammatory syndromeUncertain significance · ★ · germline
- Yao syndromeUncertain significance · ★ · germline
- Blau syndrome (BLAUS)Likely benign · ★ · germline
- Inflammatory bowel disease 1 (IBD1)Likely benign · ★ · germline
- Yao syndromeLikely benign · ★ · germline
- Blau syndrome (BLAUS)association · ★ · germline
- Regional enteritisassociation · ★ · germline
- Crohn diseasenot provided · unknown
- not providedLikely benign · ★★ · germline
- not specifiedConflicting interpretations · ★ · germline
gnomAD allele frequency 2.44e-2
rs2066844 is a genetic variant located in the NOD2 gene. dbsnp · gene
In gnomAD, rs2066844 has an overall allele frequency of 2.4%. gnomad · frequency
In ClinVar, rs2066844 is classified as Uncertain significance for Autoinflammatory syndrome (1 review star, germline; last evaluated 2022-04-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2066844 is classified as Uncertain significance for Yao syndrome (1 review star, germline; last evaluated 2020-08-18). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2066844 is classified as Likely benign for Blau syndrome (BLAUS) (1 review star, germline; last evaluated 2023-01-31). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2066844 is classified as Likely benign for Inflammatory bowel disease 1 (IBD1) (1 review star, germline; last evaluated 2023-01-31). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2066844 is classified as Likely benign for Yao syndrome (1 review star, germline; last evaluated 2023-01-31). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2066844 is classified as association for Blau syndrome (BLAUS) (1 review star, germline; last evaluated 2025-02-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2066844 is classified as association for Regional enteritis (1 review star, germline; last evaluated 2025-02-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2066844 is classified as not provided for Crohn disease (0 review stars). clinvar · classificationclinvar · review confidence
In ClinVar, rs2066844 is classified as Likely benign for not provided (2 review stars, germline; last evaluated 2024-10-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2066844 is classified as Conflicting interpretations for not specified (1 review star, germline; last evaluated 2016-03-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 079d6fbabb84b970 · 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.