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: 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: 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: 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
dbSNP: rs1057517118
rs1057517118
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517152
rs1057517152
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517323
rs1057517323
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		CGTGT 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517323
rs1057517323
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		CGTGT 0.700 CausalMutation CLINVAR
dbSNP: rs1171426785
rs1171426785
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1224475289
rs1224475289
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1231357043
rs1231357043
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1276397342
rs1276397342
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554059509
rs1554059509
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554062168
rs1554062168
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554062343
rs1554062343
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554064083
rs1554064083
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554065254
rs1554065254
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 CausalMutation CLINVAR