rs779709646
A SNP in the DHCR7 gene on chromosome 11. Its most notable genotype is T;T: Smith-Lemli-Opitz syndrome
- Gene
- DHCR7
- Location
- Chr 1171,435,664 (GRCh38)
- Highest magnitude
- 9.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TBadUnaffected carrier of a Smith-Lemli-Opitz syndrome mutation
- T;TMost notableBadSmith-Lemli-Opitz syndrome
On SNPedia: (C;C), (C;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
- rs80338859A;AMiscall for 23andMe customers; otherwise, Smith-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
c.1139G>A (p.Cys380Tyr) 23andMe calls this i5012826
C;T
see Smith-Lemli-Opitz syndrome
T;T
see Smith-Lemli-Opitz syndrome
Source and license
Adapted from rs779709646 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.