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: rs760428437
rs760428437
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.700 GeneticVariation CLINVAR Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. 24500076 2014
dbSNP: rs760428437
rs760428437
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.700 GeneticVariation CLINVAR Adrenal function in Smith-Lemli-Opitz syndrome. 21990131 2011
dbSNP: rs760428437
rs760428437
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.700 GeneticVariation CLINVAR Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. 16983147 2006
dbSNP: rs760428437
rs760428437
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		T 0.700 CausalMutation CLINVAR