Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally. 25637936

2015
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs373306653
rs373306653
DHCR7
G 0.800 GeneticVariation CLINVAR Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. 20014133

2010
dbSNP: rs373306653
rs373306653
DHCR7
G 0.800 GeneticVariation CLINVAR Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. 17441222

2007
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 15954111

2005
dbSNP: rs373306653
rs373306653
DHCR7
G 0.800 GeneticVariation CLINVAR Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. 15896653

2005
dbSNP: rs373306653
rs373306653
DHCR7
G 0.800 GeneticVariation CLINVAR Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. 15776424

2005
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. 12949967

2003
dbSNP: rs373306653
rs373306653
DHCR7
G 0.800 GeneticVariation CLINVAR Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. 11745994

2001
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. 11427181

2001
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. 11175299

2001
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. 10995508

2000
dbSNP: rs373306653
rs373306653
DHCR7
G 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: rs373306653
rs373306653
DHCR7
G 0.800 GeneticVariation CLINVAR Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. 9653161

1998
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. 9683613

1998
dbSNP: rs373306653
rs373306653
DHCR7
0.800 GeneticVariation UNIPROT Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. 9653161

1998