DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Disease: Smith-Lemli-Opitz Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200926
rs786200926
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		A 0.700 CausalMutation CLINVAR