Gene: DHCR7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909768
rs121909768
DHCR7
T 0.810 CausalMutation CLINVAR Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. 17441222

2007
dbSNP: rs121909768
rs121909768
DHCR7
T 0.810 CausalMutation CLINVAR Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? 20556518

2010
dbSNP: rs121909768
rs121909768
DHCR7
T 0.810 CausalMutation CLINVAR These results suggest that R352Q is a predominant founder mutation in Japanese SLOS patients. 16044199

2005
dbSNP: rs121909768
rs121909768
DHCR7
T 0.810 CausalMutation CLINVAR Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
dbSNP: rs121909768
rs121909768
DHCR7
T 0.810 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome among Arabs. 21696385

2012
dbSNP: rs121909764
rs121909764
DHCR7
T 0.800 CausalMutation CLINVAR

dbSNP: rs398123607
rs398123607
DHCR7
T 0.800 GeneticVariation CLINVAR Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 22438180

2012
dbSNP: rs398123607
rs398123607
DHCR7
T 0.800 CausalMutation CLINVAR Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 14981719

2004
dbSNP: rs398123607
rs398123607
DHCR7
T 0.800 CausalMutation CLINVAR Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review. 27401223

2016
dbSNP: rs398123607
rs398123607
DHCR7
T 0.800 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 22438180

2012
dbSNP: rs398123607
rs398123607
DHCR7
T 0.800 GeneticVariation CLINVAR Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 14981719

2004
dbSNP: rs398123607
rs398123607
DHCR7
T 0.800 GeneticVariation CLINVAR Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
dbSNP: rs398123607
rs398123607
DHCR7
T 0.800 CausalMutation CLINVAR Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
dbSNP: rs398123607
rs398123607
DHCR7
T 0.800 CausalMutation CLINVAR Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. 17441222

2007
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 CausalMutation CLINVAR Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 15464432

2005
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 GeneticVariation CLINVAR Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. 10896306

2000
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 GeneticVariation CLINVAR Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. 24500076

2014
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 GeneticVariation CLINVAR Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 15464432

2005
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 CausalMutation CLINVAR DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. 15521979

2004
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 CausalMutation CLINVAR Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. 24500076

2014
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 CausalMutation CLINVAR Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. 12270273

2002
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 GeneticVariation CLINVAR DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. 15521979

2004
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 GeneticVariation CLINVAR Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. 16983147

2006
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 GeneticVariation CLINVAR Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. 12270273

2002
dbSNP: rs751604696
rs751604696
DHCR7
T 0.800 GeneticVariation CLINVAR Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000