DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 14; N. variants: 93
Disease: Smith-Lemli-Opitz Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779709646
rs779709646
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs779709646
rs779709646
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.800 GeneticVariation CLINVAR Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). 17497248 2007
dbSNP: rs779709646
rs779709646
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.800 GeneticVariation CLINVAR Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. 17994283 2007
dbSNP: rs779709646
rs779709646
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.800 GeneticVariation CLINVAR Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. 16983147 2006
dbSNP: rs779709646
rs779709646
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.800 GeneticVariation CLINVAR Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. 15896653 2005
dbSNP: rs779709646
rs779709646
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.800 GeneticVariation CLINVAR Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. 12070263 2002
dbSNP: rs779709646
rs779709646
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		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: rs779709646
rs779709646
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.800 CausalMutation CLINVAR