Have questions? Visit https://www.reddit.com/r/SNPedia

rs11073964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11073964(C;T)
Make rs11073964(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position91000531
GeneVPS33B
is asnp
is mentioned by
dbSNPrs11073964
dbSNP (old)rs11073964
ClinGenrs11073964
ebirs11073964
HLIrs11073964
Exacrs11073964
Varsomers11073964
Maprs11073964
PheGenIrs11073964
Biobankrs11073964
1000 genomesrs11073964
hgdprs11073964
ensemblrs11073964
gopubmedrs11073964
geneviewrs11073964
scholarrs11073964
googlers11073964
pharmgkbrs11073964
gwascentralrs11073964
openSNPrs11073964
23andMers11073964
23andMe allrs11073964
SNP Nexus

SNPshotrs11073964
SNPdbers11073964
MSV3drs11073964
GWAS Ctlgrs11073964
GMAF0.2796
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene VPS33B
allele T
frequency 0.3
sift TOLERATED
HuRef 1103645683443
Disease Association 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
VPS33B-G514S
aa_change Gly514Ser
aa_change_short G514S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.566741
summary



ClinVar
Risk rs11073964(G;G) rs11073964(T;T)
Alt rs11073964(G;G) rs11073964(T;T)
Reference Rs11073964(C;C)
Significance Non-pathogenic
Disease not specified Arthrogryposis
Variation info
Gene VPS33B
CLNDBN not specified Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
Reversed 0
HGVS NC_000015.9:g.91543761C>T
CLNSRC
CLNACC RCV000253189.1, RCV000305164.1,