{{Rsnum
|rsid=104886034
|Chromosome=11
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=DHCR7
|Gene_s=DHCR7
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|position=71444165
}}{{ClinVar
|ALT=T
|CHROM=11
|CLNALLE=1
|CLNDBN=Smith-Lemli-Opitz syndrome
|CLNDSDB=OMIM
|CLNDSDBID=270400
|CLNHGVS=NC_000011.9:g.71155211G>T
|CLNORIGIN=1
|CLNSIG=5
|Disease=Smith-Lemli-Opitz syndrome
|FwdALT=A
|FwdREF=C
|GENEINFO=DHCR7:1717
|GENE_ID=1717
|GENE_NAME=DHCR7
|REF=G
|RSPOS=71155211
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;PMC;NSM;REF;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000a01000002110100
|WGT=1
|dbSNPBuildID=132
|rsid=104886034
}}{{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.
}}