Variant (rsID / SNP)
rs5743289
rs5743289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOD2. Location: chromosome 16, position 50,756,774. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NOD2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:50756774
- Cytoband
- 16q12.1
- HGVS
- NM_001370466.1(NOD2):c.2717+158C>T
- Allele change
- Silent
Associated conditions / phenotypes
Susceptibility to Yao syndrome|Blau syndrome|Autoinflammatory syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.