rs80338859 DHCR7
Homozygous risk allele (A). Associated with: phenotype not specified; SMITH-LEMLI-OPITZ SYNDROME
What is rs80338859?
rs80338859 is a single-nucleotide polymorphism (SNP) in the DHCR7 gene (7-dehydrocholesterol reductase). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as AA. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.
What does each rs80338859 genotype mean?
| Genotype | Association | What the evidence says | Confidence |
|---|---|---|---|
| AA | elevated | Homozygous risk allele (A). Associated with: phenotype not specified; SMITH-LEMLI-OPITZ SYNDROME | 65% |
Is rs80338859 on 23andMe and AncestryDNA chips?
Yes — it is genotyped directly on 23andMe V5. Orviva reads it from a raw-data export without imputation.
Sources
Upload your 23andMe, AncestryDNA or WeGene raw file → · Ask G2: “What is my genotype at rs80338859 and what does it mean for me?”
Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.