Variant (rsID / SNP)
rs7530511
rs7530511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL23R. Location: chromosome 1, position 67,685,387. The table records no clinical significance for this variant.
Reference-table entries
- Variant type
- missense_variant
- Chromosome / position
- 1:67685387
- HGVS
- NM_144701.3,c.929T>C,p.Leu310Pro
- Allele change
- Missense_L310P
Associated conditions / phenotypes
Psoriasis|Pustulosis of Palm and Sole|Autoimmune Disease|Psoriatic Arthritis|Rheumatoid Arthritis|Pemphigoid|Inflammatory Bowel Disease|Bullous Pemphigoid|Ulcerative Colitis|Crohn's Disease|Cytokine Deficiency|Inflammatory Spondylopathy|Spondyloarthropathy 1|Spondylitis|Graves' Disease|Colitis|Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity|Arthritis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.