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Variant (rsID / SNP)

rs104895467

NOD2

rs104895467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOD2. Location: chromosome 16, position 50,750,810. Clinical significance in the table: Conflicting interpretations of pathogenicity; association.

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Reference-table entries

NOD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; association
Variant type
single nucleotide variant
Chromosome / position
16:50750810
Cytoband
16q12.1
HGVS
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
Allele change
Missense_N852S

Associated conditions / phenotypes

Blau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.