rs80338859
A SNP in the DHCR7 gene on chromosome 11. Its most notable genotype is A;A: Miscall for 23andMe customers; otherwise, Smith-Lemli-Opitz syndrome
- Gene
- DHCR7
- Location
- Chr 1171,435,827 (GRCh38)
- Highest magnitude
- 9.0Very important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- A;CBadLikely miscall in 23andMe v4 data; otherwise: Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
- A;AMost notableBadMiscall for 23andMe customers; otherwise, Smith-Lemli-Opitz syndrome
SNPedia records rs80338859 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other DHCR7 SNPs
- rs779709646T;TSmith-Lemli-Opitz syndromeVery important
- rs11555217C;TUnaffected carrier of a Smith-Lemli-Opitz syndrome mutationImportant
- 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
rs80338859, also known as c.976G>T, p.Val326Leu and V326L, represents a mutation in the DHCR7 gene on chromosome 11. Inherited recessively, the rare rs80338859(T) mutation is perhaps one of the three most common leading to Smith-Lemli-Opitz syndrome, a metabolic syndrome of multiple congenital malformations. This mutation may be a founder mutation associated originally primarily with Polish and German/Austrian populations. Note to 23andMe customers: based on feedback from Promethease users, we believe that this SNP is prone to being miscalled in your data files as produced by 23andMe.
A;C
see discussion at rs80338859
A;A
see discussion at rs80338859
Source and license
Adapted from rs80338859 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.