C/CPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hirschsprung disease compared to the general population. (GWAS Catalog, Eur J Hum Genet 2018, PMID:29379196)
C/TPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hirschsprung disease. (GWAS Catalog, Eur J Hum Genet 2018, PMID:29379196)
T/TPublished research associates this genotype with typical/baseline likelihood of Hirschsprung disease — no copies of the reported risk allele. (GWAS Catalog, Eur J Hum Genet 2018, PMID:29379196)
rs117617821 is a single position in the genome, in or near the SEMA3 gene. Published research associates it with hirschsprung disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs117617821 linked to?
On MyGeneLog this position is linked to Hirschsprung Disease. The research behind each link, and its sources, are set out on that condition page.
Does having rs117617821 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs117617821 come from?
GWAS Catalog, Eur J Hum Genet 2018, PMID:29379196. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.