{{Rsnum
|rsid=11073964
|Gene=VPS33B
|Chromosome=15
|position=91000531
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2796
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=VPS33B
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 42.5 | 47.8 | 9.7
| HCB | 0.0 | 0.7 | 99.3
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 2.7 | 97.3
| ASW | 0.0 | 24.6 | 75.4
| CHB | 0.0 | 0.7 | 99.3
| CHD | 0.0 | 0.9 | 99.1
| GIH | 11.9 | 49.5 | 38.6
| LWK | 0.9 | 6.4 | 92.7
| MEX | 10.3 | 41.4 | 48.3
| MKK | 0.0 | 0.0 | 0.0
| TSI | 37.6 | 46.5 | 15.8
| HapMapRevision=28
}}

{{Venter SNP
|rsid=11073964
|allele=T
|frequency=0.3
|uid=1103645683443
|type=heterozygous_SNP
|hugo=VPS33B
|ensembl gene=ENSG00000184056
|ensembl transcript=ENST00000333371
|sift=TOLERATED
|disease=Defects in VPS33B are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) (MIM:208085). ARC is an autosomal recessive multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.
}}

{{GET Evidence
|gene=VPS33B
|aa_change=Gly514Ser
|aa_change_short=G514S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11073964
|overall_frequency_n=6097
|overall_frequency_d=10758
|overall_frequency=0.566741
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=85
|n_articles=0
|n_articles_annotated=0
|nblosum100=2
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}