Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750281602
rs750281602
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
0.800 GeneticVariation UNIPROT Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
dbSNP: rs879253763
rs879253763
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
0.800 GeneticVariation UNIPROT Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
dbSNP: rs879253766
rs879253766
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
0.800 GeneticVariation UNIPROT Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
dbSNP: rs750281602
rs750281602
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs879253763
rs879253763
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs879253766
rs879253766
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs1554520924
rs1554520924
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C1840404
Disease:
Hyperostosis Cranialis Interna
0.700 GeneticVariation UNIPROT Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis. 29621230 2018
dbSNP: rs1039778197
rs1039778197
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
G 0.700 CausalMutation CLINVAR
dbSNP: rs1554519011
rs1554519011
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554519303
rs1554519303
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs879253764
rs879253764
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs879253765
rs879253765
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs7833266
rs7833266
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE In further endophenotype stratification, the single locus of rs2272080 and the haplotypes of both two-SNP haplotype (rs7833266-rs2272080) and seven-SNP haplotype (rs2461491-rs2469758-rs2461489-rs2469770-rs2449340-rs1482337-rs2252471) showed significant associations with the subgroup of schizophrenia with deficits of the sustained attention as tested by the continuous performance test (CPT, P<0.05) and the executive functioning as tested by the Wisconsin Card Sorting Test (WCST, P<0.05). 17339875 2007