CEP83, centrosomal protein 83, 51134

N. diseases: 15; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777487
rs587777487
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		0.800 GeneticVariation UNIPROT Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 24882706 2014
dbSNP: rs4761470
rs4761470
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C0337434
Disease:
Estradiol measurement 		0.800 GeneticVariation GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs4761470
rs4761470
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C1443016
Disease:
Estradiol level result 		0.800 GeneticVariation GWASCAT TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs4761470
rs4761470
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C0337434
Disease:
Estradiol measurement 		0.800 GeneticVariation GWASCAT TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs4761470
rs4761470
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C1443016
Disease:
Estradiol level result 		0.800 GeneticVariation GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs587777487
rs587777487
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		G 0.800 CausalMutation CLINVAR
dbSNP: rs144449115
rs144449115
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs10859698
rs10859698
Entrez Id: 51134;144486
Gene Symbol: CEP83;CEP83-DT
CEP83;CEP83-DT
CUI: C0042834
Disease:
Vital capacity 		A 0.700 GeneticVariation GWASCAT Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. 30061609 2018
dbSNP: rs113918189
rs113918189
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C0337443
Disease:
Sodium measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs113918189
rs113918189
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C0201952
Disease:
Chloride measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs3803070
rs3803070
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs3803070
rs3803070
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs11107531
rs11107531
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C0337434
Disease:
Estradiol measurement 		0.700 GeneticVariation GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs11107531
rs11107531
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C1443016
Disease:
Estradiol level result 		0.700 GeneticVariation GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs575315089
rs575315089
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C1443016
Disease:
Estradiol level result 		0.700 GeneticVariation GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs575315089
rs575315089
Entrez Id: 10154;51134
Gene Symbol: PLXNC1;CEP83
PLXNC1;CEP83
CUI: C0337434
Disease:
Estradiol measurement 		0.700 GeneticVariation GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs1207804224
rs1207804224
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs368619022
rs368619022
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs369483167
rs369483167
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777486
rs587777486
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777488
rs587777488
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255575
rs879255575
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs879255576
rs879255576
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		A 0.700 CausalMutation CLINVAR