Variant (rsID / SNP)
rs2066845
rs2066845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOD2. Location: chromosome 16, position 50,756,540. Clinical significance in the table: Conflicting interpretations of pathogenicity; association.
Reference-table entries
NOD2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; association
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:50756540
- Cytoband
- 16q12.1
- HGVS
- NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
- Allele change
- Missense_G908R
Associated conditions / phenotypes
Blau syndrome|Susceptibility to Yao syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Psoriatic arthritis, susceptibility to|Inflammatory bowel disease 1|Blau syndrome|Susceptibility to Yao syndrome|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.