TRIM14, tripartite motif containing 14, 9830

N. diseases: 38; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140402727
rs140402727
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		0.800 GeneticVariation UNIPROT NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
dbSNP: rs878852980
rs878852980
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		0.800 GeneticVariation UNIPROT NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
dbSNP: rs878852981
rs878852981
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		0.800 GeneticVariation UNIPROT NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
dbSNP: rs878852982
rs878852982
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		0.800 GeneticVariation UNIPROT NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
dbSNP: rs140402727
rs140402727
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		A 0.800 CausalMutation CLINVAR
dbSNP: rs878852980
rs878852980
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs878852981
rs878852981
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		C 0.800 CausalMutation CLINVAR
dbSNP: rs878852982
rs878852982
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1024025721
rs1024025721
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		0.700 GeneticVariation UNIPROT NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
dbSNP: rs10985065
rs10985065
Entrez Id: 9830
Gene Symbol: TRIM14
TRIM14
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs7022455
rs7022455
Entrez Id: 9830
Gene Symbol: TRIM14
TRIM14
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs7855251
rs7855251
Entrez Id: 9830
Gene Symbol: TRIM14
TRIM14
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs779218846
rs779218846
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878853267
rs878853267
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs878853268
rs878853268
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		ACAT 0.700 CausalMutation CLINVAR
dbSNP: rs879255602
rs879255602
Entrez Id: 9830;54187
Gene Symbol: TRIM14;NANS
TRIM14;NANS
CUI: C1864872
Disease:
Spondyloepimetaphyseal dysplasia, Genevieve type 		ATGG 0.700 CausalMutation CLINVAR