Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767713084
rs767713084
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.800 GeneticVariation UNIPROT
dbSNP: rs767713084
rs767713084
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		T 0.800 CausalMutation CLINVAR
dbSNP: rs773432002
rs773432002
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.800 GeneticVariation UNIPROT
dbSNP: rs773432002
rs773432002
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		G 0.800 CausalMutation CLINVAR
dbSNP: rs7242481
rs7242481
Entrez Id: 25800;55250
Gene Symbol: SLC39A6;ELP2
SLC39A6;ELP2
CUI: C0007137
Disease:
Squamous cell carcinoma 		A 0.700 GeneticVariation GWASDB Genome-wide association study identifies common variants in SLC39A6 associated with length of survival in esophageal squamous-cell carcinoma. 23644492 2013
dbSNP: rs371310428
rs371310428
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		T 0.700 CausalMutation CLINVAR
dbSNP: rs772450541
rs772450541
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		C 0.700 CausalMutation CLINVAR
dbSNP: rs7242481
rs7242481
Entrez Id: 25800;55250
Gene Symbol: SLC39A6;ELP2
SLC39A6;ELP2
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		0.010 GeneticVariation BEFREE We identified rs1050631 in SLC39A6 as associated with the survival times of affected individuals, with the hazard ratio for death from ESCC in the combined sample being 1.30 (95% confidence interval (CI) = 1.19-1.43; P = 3.77 × 10(-8)). rs7242481, located in the 5' UTR of SLC39A6, disturbs a transcriptional repressor binding site and results in upregulation of SLC39A6 expression. 23644492 2013