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: rs1057516517
rs1057516517
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		A 0.700 GeneticVariation CLINVAR