Variant (rsID / SNP)
rs61747625
rs61747625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOD2. Location: chromosome 16, position 50,746,086. 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
- 16:50746086
- Cytoband
- 16q12.1
- HGVS
- NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)
- Allele change
- Missense_A755V
Associated conditions / phenotypes
Blau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Psoriatic arthritis, susceptibility to|Susceptibility to Yao syndrome|Inflammatory bowel disease 1|Blau syndrome|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.