Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12899811
rs12899811
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.800 GeneticVariation GWASDB Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480 2014
dbSNP: rs12899811
rs12899811
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.800 GeneticVariation GWASCAT Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480 2014
dbSNP: rs121434385
rs121434385
Entrez Id: 26276;101926911
Gene Symbol: VPS33B;VPS33B-DT
VPS33B;VPS33B-DT
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.800 GeneticVariation UNIPROT Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes. 23918659 2013
dbSNP: rs121434385
rs121434385
Entrez Id: 26276;101926911
Gene Symbol: VPS33B;VPS33B-DT
VPS33B;VPS33B-DT
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.800 GeneticVariation UNIPROT Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. 22753090 2012
dbSNP: rs12899811
rs12899811
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 GeneticVariation GWASDB Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. 22885922 2012
dbSNP: rs12899811
rs12899811
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.800 GeneticVariation GWASCAT Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. 22885922 2012
dbSNP: rs121434385
rs121434385
Entrez Id: 26276;101926911
Gene Symbol: VPS33B;VPS33B-DT
VPS33B;VPS33B-DT
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.800 GeneticVariation UNIPROT Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 20190753 2010
dbSNP: rs121434385
rs121434385
Entrez Id: 26276;101926911
Gene Symbol: VPS33B;VPS33B-DT
VPS33B;VPS33B-DT
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.800 GeneticVariation UNIPROT Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. 18853461 2009
dbSNP: rs121434385
rs121434385
Entrez Id: 26276;101926911
Gene Symbol: VPS33B;VPS33B-DT
VPS33B;VPS33B-DT
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.800 GeneticVariation UNIPROT Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 15052268 2004
dbSNP: rs121434385
rs121434385
Entrez Id: 26276;101926911
Gene Symbol: VPS33B;VPS33B-DT
VPS33B;VPS33B-DT
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1442840881
rs1442840881
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		AG 0.700 CausalMutation CLINVAR Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. 24917129 2015
dbSNP: rs398122407
rs398122407
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. 24917129 2015
dbSNP: rs769333468
rs769333468
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		T 0.700 CausalMutation CLINVAR Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. 24917129 2015
dbSNP: rs769333468
rs769333468
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		T 0.700 CausalMutation CLINVAR ARC syndrome with high GGT cholestasis caused by VPS33B mutations. 24782640 2014
dbSNP: rs139829189
rs139829189
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.700 GeneticVariation UNIPROT Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes. 23918659 2013
dbSNP: rs139829189
rs139829189
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.700 GeneticVariation UNIPROT Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. 22753090 2012
dbSNP: rs1442840881
rs1442840881
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		AG 0.700 CausalMutation CLINVAR Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. 22753090 2012
dbSNP: rs398122407
rs398122407
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. 22753090 2012
dbSNP: rs769333468
rs769333468
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		T 0.700 CausalMutation CLINVAR Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome. 21851503 2011
dbSNP: rs139829189
rs139829189
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.700 GeneticVariation UNIPROT Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 20190753 2010
dbSNP: rs139829189
rs139829189
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.700 GeneticVariation UNIPROT Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. 18853461 2009
dbSNP: rs1442840881
rs1442840881
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		AG 0.700 CausalMutation CLINVAR Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. 18853461 2009
dbSNP: rs398122407
rs398122407
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. 18853461 2009
dbSNP: rs769333468
rs769333468
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		T 0.700 CausalMutation CLINVAR Clinical characteristics and VPS33B mutations in patients with ARC syndrome. 19274792 2009
dbSNP: rs769333468
rs769333468
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		T 0.700 CausalMutation CLINVAR Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. 18853461 2009