Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs1373855924
rs1373855924
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C0020757
Disease:
Ichthyoses 		0.010 GeneticVariation BEFREE Our results demonstrate that p.Gly131Glu mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome. 28017832 2017
dbSNP: rs1373855924
rs1373855924
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C0022579
Disease:
Keratoderma 		0.010 GeneticVariation BEFREE Our results demonstrate that p.Gly131Glu mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome. 28017832 2017
dbSNP: rs1373855924
rs1373855924
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C1859722
Disease:
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.010 GeneticVariation BEFREE Two patients were homozygous for the missense variant p.Gly131Glu, whereas one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome. 28017832 2017
dbSNP: rs1373855924
rs1373855924
Entrez Id: 26276;105370970
Gene Symbol: VPS33B;LOC105370970
VPS33B;LOC105370970
CUI: C0020758
Disease:
Congenital ichthyosis 		0.010 GeneticVariation BEFREE Our results demonstrate that p.Gly131Glu mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome. 28017832 2017