rs145293873

This variant is located in the NOD2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

phobic disorder

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 2.46
p 5.0e-16
N 629,402
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Conflicting Classifications
9 submitters2 publications

Blau syndrome; not provided; Autoinflammatory syndrome; Blau syndrome;Regional enteritis

View on ClinVar →

About NOD2

This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

View all NOD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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