{{Rsnum
|rsid=80338859
|Chromosome=11
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=DHCR7
|position=71435827
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DHCR7
}}{{omim
|id=602858
|rsnum=80338859
|variant=0011
}}{{ClinVar
|rsid=80338859
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=71146873
|CHROM=11
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=DHCR7:1717
|GENE_NAME=DHCR7
|GENE_ID=1717
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.71146873C>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1143; 602858.0011
|CLNSIG=5
|CLNCUI=C0175694; C0175694
|CLNDBN=Smith-Lemli-Opitz syndrome
|Disease=Smith-Lemli-Opitz syndrome
|CLNACC=RCV000007187.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1143:C0175694:270400:818:43929004
}}{{PMID Auto
|PMID=9653161
|Title=Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
|OA=1
}}

{{PMID Auto
|PMID=10814720
|Title=Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
}}

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

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

{{PMID Auto
|PMID=16207203
|Title=Recent insights into the Smith-Lemli-Opitz syndrome.
|OA=1
}}