rs138659167
A SNP in the DHCR7 gene on chromosome 11. Its most notable genotype is A;C: Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
- Gene
- DHCR7
- Location
- Chr 1171,435,840 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadUnaffected carrier of a Smith-Lemli-Opitz syndrome mutation
- C;CGoodcommon in clinvar
- C;GBadUnaffected carrier of a Smith-Lemli-Opitz syndrome mutation
On SNPedia: (A;C), (C;C), (C;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
- 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
Notes
From SNPedia
Notes
rs138659167, also known as c.964-1G>C in the DHCR7 gene; pathogenic for Smith-Lemli-Opitz syndrome if inherited recessively. Note that c.964-1G>T is also a reported variant for this rsID, and it is also reported in ClinVar as pathogenic for SLO syndrome.
A;C
see Smith-Lemli-Opitz syndrome
C;G
see Smith-Lemli-Opitz syndrome
Source and license
Adapted from rs138659167 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.