rs11555217
A SNP in the DHCR7 gene on chromosome 11. Its most notable genotype is C;T: Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
- Gene
- DHCR7
- Location
- Chr 1171,441,401 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadUnaffected carrier of a Smith-Lemli-Opitz syndrome mutation
- C;CGoodcommon in clinvar
SNPedia records rs11555217 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other DHCR7 SNPs
- rs80338859A;AMiscall for 23andMe customers; otherwise, Smith-Lemli-Opitz syndromeVery important
- rs779709646T;TSmith-Lemli-Opitz syndromeVery important
- rs28938174A;TUnaffected carrier of a Smith-Lemli-Opitz syndrome mutationImportant
- rs61757582A;GUnaffected carrier of a Smith-Lemli-Opitz syndrome mutationImportant
- rs80338853A;GUnaffected carrier of a Smith-Lemli-Opitz syndrome mutationImportant
- rs80338855A;GUnaffected carrier of a Smith-Lemli-Opitz syndrome mutationImportant
- rs80338856A;GUnaffected carrier of a Smith-Lemli-Opitz syndrome mutationImportant
- rs80338857C;TUnaffected carrier of a Smith-Lemli-Opitz syndrome mutationImportant
Notes
From SNPedia
Notes
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
C;T
see Smith-Lemli-Opitz syndrome
Source and license
Adapted from rs11555217 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.