Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434292
rs121434292
0.810 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012

dbSNP: rs121434292
rs121434292
0.810 GeneticVariation BEFREE To confirm the diagnosis of AE from congenital zinc deficiency, direct sequencing analysis of SLC39A4 was performed and revealed that he was compound heterozygous for a known missense mutation (Arg95Cys) and a novel splicing mutation in the donor site of intron 7 (c.1287+2T>C). 21165302

2010

dbSNP: rs121434292
rs121434292
0.810 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

dbSNP: rs121434292
rs121434292
0.810 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

dbSNP: rs121434292
rs121434292
0.810 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002

dbSNP: rs121434292
rs121434292
0.810 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002

dbSNP: rs121434292
rs121434292
A 0.810 CausalMutation CLINVAR

dbSNP: rs121434287
rs121434287
0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012

dbSNP: rs121434288
rs121434288
0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012

dbSNP: rs121434289
rs121434289
0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012

dbSNP: rs121434290
rs121434290
0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012

dbSNP: rs121434291
rs121434291
0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012

dbSNP: rs121434293
rs121434293
0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012

dbSNP: rs121434287
rs121434287
0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

dbSNP: rs121434288
rs121434288
0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

dbSNP: rs121434289
rs121434289
0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

dbSNP: rs121434290
rs121434290
0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

dbSNP: rs121434291
rs121434291
0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

dbSNP: rs121434293
rs121434293
0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

dbSNP: rs121434287
rs121434287
0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

dbSNP: rs121434288
rs121434288
0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

dbSNP: rs121434289
rs121434289
0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

dbSNP: rs121434290
rs121434290
0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

dbSNP: rs121434291
rs121434291
0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

dbSNP: rs121434293
rs121434293
0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003