rs11216185 - SIK3 variant near MBNL1 NKX2-5
Upload your raw genetic data once, we'll show you which variants you carry and what the research says.
Key takeaways
- No direct health association reported.
- The variant lies near MBNL1 and NKX2-5 but is not linked to disease in the study.
- Evidence quality is moderate with a sample size of 1001 cases.
Key takeaways
- No direct health association reported for this SNP.
- The variant lies near MBNL1 and NKX2-5 but is not linked to disease in the study.
- Evidence quality is moderate with a sample size of 1001 cases and 2401 controls.
What the research says The genome-wide association study on infantile hypertrophic pyloric stenosis identified six loci associated at P≤1×10-6 including rs11712066 near MBNL1 and rs573872 downstream of it and rs29784 near NKX2-5. The study did not report any association with rs11216185 [PMID 22306654].
Reported associations
- Infantile pyloric stenosis: no direct link to rs11216185; the variant is not among the six significant loci [PMID 22306654].
- Cardiac development: no association with NKX2-5 related traits reported for this SNP.
Evidence quality The supplied study used 1,001 surgery-confirmed cases and 2,401 controls from Denmark. It identified six genome-wide significant loci but none are rs11216185. The evidence is moderate; the variant appears via linkage disequilibrium with other SNPs [PMID 22306654].
Tissue-specific expression effects
- Brain_Hippocampus: increased expression of ENSG00000307802 GTEx Portal
- Testis: increased expression of ENSG00000307802 GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs11216185 mean?
rs11216185 is a common SNP located near the MBNL1 and NKX2-5 genes but current studies do not link it to any health condition.
Is this variant associated with disease?
No, the study did not find an association between rs11216185 and infantile pyloric stenosis or other traits.