Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 GeneticVariation CLINVAR Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 10400999 1999
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		0.800 GeneticVariation UNIPROT Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 10400999 1999
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		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
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		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
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.800 GeneticVariation CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389 2015
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		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
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		0.800 GeneticVariation UNIPROT D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. 11743515 2001
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		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: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		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: rs25640
rs25640
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs25640
rs25640
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387906825
rs387906825
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C4551721
Disease:
PERRAULT SYNDROME 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906825
rs387906825
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C4551721
Disease:
PERRAULT SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 20673864 2010
dbSNP: rs1057516269
rs1057516269
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516273
rs1057516273
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516310
rs1057516310
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516312
rs1057516312
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516672
rs1057516672
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		CA 0.700 GeneticVariation CLINVAR A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. 23100014 2013
dbSNP: rs1057516735
rs1057516735
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516750
rs1057516750
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516859
rs1057516859
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516936
rs1057516936
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516958
rs1057516958
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517045
rs1057517045
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR