{{Rsnum
|rsid=104886033
|Chromosome=11
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=DHCR7
|position=71444952
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DHCR7
}}{{omim
|id=602858
|rsnum=104886033
|variant=0020
}}{{ClinVar
|rsid=104886033
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=71155998
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068000000000002110100
|GENEINFO=DHCR7:1717
|GENE_NAME=DHCR7
|GENE_ID=1717
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.71155998T>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNACC=RCV000007196.1
|CLNDBN=Smith-lemli-opitz syndrome, mild
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=602858.0020
|Disease=Smith-lemli-opitz syndrome
}}{{PMID Auto
|PMID=15776424
|Title=Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
}}