Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766199971
rs766199971
HSD17B4
T 0.700 CausalMutation CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389

2015
dbSNP: rs766199971
rs766199971
HSD17B4
T 0.700 GeneticVariation CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389

2015
dbSNP: rs766199971
rs766199971
HSD17B4
T 0.700 GeneticVariation CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515

2012
dbSNP: rs766199971
rs766199971
HSD17B4
T 0.700 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006
dbSNP: rs766199971
rs766199971
HSD17B4
T 0.700 CausalMutation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006