Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853096
rs137853096
HSD17B4
A 0.800 GeneticVariation CLINVAR Expanding the genotypic spectrum of Perrault syndrome. 26970254

2017
dbSNP: rs137853096
rs137853096
HSD17B4
A 0.800 GeneticVariation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639

2016
dbSNP: rs137853096
rs137853096
HSD17B4
A 0.800 GeneticVariation CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389

2015
dbSNP: rs137853096
rs137853096
HSD17B4
A 0.800 CausalMutation CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389

2015
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 GeneticVariation CLINVAR After biochemical analysis, D-bifunctional protein deficiency was confirmed with the identification of a homozygous p.Asn457Tyr (N457Y) mutation of the HSD17B4 gene. 25882080

2015
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 CausalMutation CLINVAR After biochemical analysis, D-bifunctional protein deficiency was confirmed with the identification of a homozygous p.Asn457Tyr (N457Y) mutation of the HSD17B4 gene. 25882080

2015
dbSNP: rs137853097
rs137853097
HSD17B4
G 0.800 GeneticVariation CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389

2015
dbSNP: rs137853097
rs137853097
HSD17B4
G 0.800 GeneticVariation CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515

2012
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 CausalMutation CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515

2012
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 CausalMutation CLINVAR Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. 23181892

2012
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 GeneticVariation CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515

2012
dbSNP: rs137853096
rs137853096
HSD17B4
A 0.800 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006
dbSNP: rs137853096
rs137853096
HSD17B4
A 0.800 CausalMutation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006
dbSNP: rs137853097
rs137853097
HSD17B4
G 0.800 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 CausalMutation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 GeneticVariation CLINVAR Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2. 15644212

2005
dbSNP: rs137853096
rs137853096
HSD17B4
A 0.800 GeneticVariation CLINVAR Binary structure of the two-domain (3R)-hydroxyacyl-CoA dehydrogenase from rat peroxisomal multifunctional enzyme type 2 at 2.38 A resolution. 12517343

2003
dbSNP: rs137853097
rs137853097
HSD17B4
T 0.800 GeneticVariation CLINVAR A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency. 12562856

2003
dbSNP: rs137853096
rs137853096
HSD17B4
0.800 GeneticVariation UNIPROT D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. 11743515

2001
dbSNP: rs137853097
rs137853097
HSD17B4
0.800 GeneticVariation UNIPROT D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. 11743515

2001
dbSNP: rs137853096
rs137853096
HSD17B4
0.800 GeneticVariation UNIPROT Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity. 10671535

2000
dbSNP: rs137853097
rs137853097
HSD17B4
0.800 GeneticVariation UNIPROT Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity. 10671535

2000
dbSNP: rs137853097
rs137853097
HSD17B4
G 0.800 GeneticVariation CLINVAR Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group. 11330053

2000
dbSNP: rs137853096
rs137853096
HSD17B4
A 0.800 GeneticVariation CLINVAR Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid. 10497229

1999