Gene: DHCR7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. 23918729

2013
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. 23293579

2012
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 22438180

2012
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Mutational spectrum of Smith-Lemli-Opitz syndrome. 23042628

2012
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome. 21777499

2011
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. 18285838

2008
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. 16761297

2006
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? 16906538

2006
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 15464432

2005
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 15286151

2004
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. 11562938

2001
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Mutations in the human DHCR7 gene. 11241839

2001
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR The Smith-Lemli-Opitz syndrome. 10807690

2000
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 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: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. 9024557

1997
dbSNP: rs1331331095
rs1331331095
DHCR7
T 0.700 CausalMutation CLINVAR Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 8259166

1994