Variant: rs1046560765 

    present in Gene: DHCR7
    present in Chromosome: 11
    Position on Chromosome: 71435581
    Alleles of this Variant: A/G

rs1046560765 in DHCR7 gene and Smith-Lemli-Opitz Syndrome PMID 10995508 2000 Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

PMID 11175299 2001 Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

PMID 15896653 2005 Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

PMID 23918729 2013 Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

PMID 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 12818773 2003 [Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].