Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939092
rs28939092
0.800 GeneticVariation UNIPROT Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. 21671375

2011

dbSNP: rs387906939
rs387906939
0.800 GeneticVariation UNIPROT Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. 21671375

2011

dbSNP: rs387906940
rs387906940
0.800 GeneticVariation UNIPROT Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. 21671375

2011

dbSNP: rs28939092
rs28939092
0.800 GeneticVariation UNIPROT Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. 11519011

2001

dbSNP: rs387906939
rs387906939
0.800 GeneticVariation UNIPROT Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. 11519011

2001

dbSNP: rs387906940
rs387906940
0.800 GeneticVariation UNIPROT Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. 11519011

2001

dbSNP: rs119475041
rs119475041
0.800 GeneticVariation UNIPROT

dbSNP: rs281797256
rs281797256
0.700 GeneticVariation UNIPROT Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. 21671375

2011

dbSNP: rs281797257
rs281797257
0.700 GeneticVariation UNIPROT Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. 21671375

2011

dbSNP: rs281797256
rs281797256
0.700 GeneticVariation UNIPROT Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. 11519011

2001

dbSNP: rs281797257
rs281797257
0.700 GeneticVariation UNIPROT Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. 11519011

2001