Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1871534
rs1871534
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.010 GeneticVariation BEFREE The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. 24586184

2014
dbSNP: rs534850657
rs534850657
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.010 GeneticVariation BEFREE The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. 24586184

2014
dbSNP: rs782427403
rs782427403
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.010 GeneticVariation BEFREE The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. 24586184

2014
dbSNP: rs2977838
rs2977838
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.700 GeneticVariation UNIPROT

dbSNP: rs782110796
rs782110796
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.700 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004
dbSNP: rs782110796
rs782110796
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.700 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003
dbSNP: rs782110796
rs782110796
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.700 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002
dbSNP: rs782110796
rs782110796
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.700 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002
dbSNP: rs121434287
rs121434287
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012
dbSNP: rs121434287
rs121434287
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004
dbSNP: rs121434287
rs121434287
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003
dbSNP: rs121434287
rs121434287
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002
dbSNP: rs121434287
rs121434287
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002
dbSNP: rs121434287
rs121434287
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121434288
rs121434288
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012
dbSNP: rs121434288
rs121434288
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004
dbSNP: rs121434288
rs121434288
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003
dbSNP: rs121434288
rs121434288
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002
dbSNP: rs121434288
rs121434288
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002
dbSNP: rs121434288
rs121434288
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121434289
rs121434289
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012
dbSNP: rs121434289
rs121434289
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004
dbSNP: rs121434289
rs121434289
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003
dbSNP: rs121434289
rs121434289
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002
dbSNP: rs121434289
rs121434289
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002