Disease: Bifunctional peroxisomal enzyme deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758055753
rs758055753
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs758055753
rs758055753
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 CausalMutation CLINVAR