Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121434383
rs121434383
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434384
rs121434384
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555459218
rs1555459218
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555460030
rs1555460030
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122407
rs398122407
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs398122408
rs398122408
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs751858602
rs751858602
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794726658
rs794726658
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs864622006
rs864622006
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		G 0.700 GeneticVariation CLINVAR
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: rs139829189
rs139829189
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.700 GeneticVariation UNIPROT Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 15052268 2004
dbSNP: rs1442840881
rs1442840881
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		AG 0.700 CausalMutation CLINVAR Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 15052268 2004
dbSNP: rs398122407
rs398122407
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 15052268 2004
dbSNP: rs1442840881
rs1442840881
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		AG 0.700 CausalMutation CLINVAR Clinical and molecular genetic features of ARC syndrome. 16896922 2006
dbSNP: rs398122407
rs398122407
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Clinical and molecular genetic features of ARC syndrome. 16896922 2006
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: 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
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: 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: 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