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 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
dbSNP: rs138659167
rs138659167
DHCR7
G 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: rs138659167
rs138659167
DHCR7
G 0.700 CausalMutation CLINVAR The Smith-Lemli-Opitz syndrome. 10807690

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: rs138659167
rs138659167
DHCR7
G 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
dbSNP: rs138659167
rs138659167
DHCR7
G 0.700 CausalMutation CLINVAR Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 8259166

1994