Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338853
rs80338853
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		A 0.840 GeneticVariation CLINVAR

dbSNP: rs886041354
rs886041354
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs80338855
rs80338855
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs779709646
rs779709646
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs777425801
rs777425801
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs753960624
rs753960624
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs28938174
rs28938174
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909765
rs121909765
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909764
rs121909764
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1173707321
rs1173707321
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894212
rs104894212
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894213
rs104894213
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.750 CausalMutation CLINVAR

dbSNP: rs949177
rs949177
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs80338863
rs80338863
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs786200926
rs786200926
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs781687341
rs781687341
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs781687341
rs781687341
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs779896782
rs779896782
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs775575609
rs775575609
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs775034584
rs775034584
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs774291653
rs774291653
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs774291653
rs774291653
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs774187452
rs774187452
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs769639753
rs769639753
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs760428437
rs760428437
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		T 0.700 CausalMutation CLINVAR