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rs121434384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434384(C;T)
Make rs121434384(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position91002143
GeneVPS33B
is asnp
is mentioned by
dbSNPrs121434384
ebirs121434384
HLIrs121434384
Exacrs121434384
Varsomers121434384
Maprs121434384
PheGenIrs121434384
hapmaprs121434384
1000 genomesrs121434384
hgdprs121434384
ensemblrs121434384
gopubmedrs121434384
geneviewrs121434384
scholarrs121434384
googlers121434384
pharmgkbrs121434384
gwascentralrs121434384
openSNPrs121434384
23andMers121434384
23andMe allrs121434384
SNP Nexus

SNPshotrs121434384
SNPdbers121434384
MSV3drs121434384
GWAS Ctlgrs121434384
Max Magnitude0
OMIM608552
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434384(A,T;A,T)
Alt rs121434384(A,T;A,T)
Reference rs121434384(C;C)
Significance Pathogenic
Disease Arthrogryposis renal dysfunction cholestasis syndrome
Variation info
Gene VPS33B
CLNDBN Arthrogryposis renal dysfunction cholestasis syndrome
Reversed 1
HGVS NC_000015.9:g.91545373G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002286.3,