Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119475041
rs119475041
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		T 0.800 CausalMutation CLINVAR

dbSNP: rs119475041
rs119475041
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs28939092
rs28939092
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		G 0.800 CausalMutation CLINVAR

dbSNP: rs387906939
rs387906939
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387906940
rs387906940
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387906938
rs387906938
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		A 0.700 CausalMutation CLINVAR