{{Rsnum
|rsid=11555217
|Chromosome=11
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=DHCR7
|position=71441401
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DHCR7
}}{{omim
|id=602858
|rsnum=11555217
|variant=0010
}}

{{ClinVar
|rsid=11555217
|Reversed=1
|FwdREF=G
|FwdALT=A,C
|REF=C
|ALT=G,T
|RSPOS=71152447
|CHROM=11
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050168000000040102110100
|GENEINFO=DHCR7:1717
|GENE_NAME=DHCR7
|GENE_ID=1717
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000011.9:g.71152447C>T
|CLNSRC=Emory University; GeneReviews
|CLNORIGIN=0
|CLNSRCID=7971; NBK1143
|CLNSIG=5
|CLNCUI=C0175694; C0175694
|CLNDBN=Smith-Lemli-Opitz syndrome; not provided
|Disease=Smith-Lemli-Opitz syndrome; not provided
|CLNACC=RCV000020436.1; RCV000079655.1
|Tags=RV;PM;PMC;SLO;VLD;GNO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1143:C0175694:270400:818:43929004
}}

{{PMID|10677299|OA=1
}} Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

{{PMID|11078571}} 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.

{{PMID|11175299}} Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

{{PMID|15521979}} DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

{{PMID|17965227}} Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}