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rs121434383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434383(C;T)
Make rs121434383(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position90999963
GeneVPS33B
is asnp
is mentioned by
dbSNPrs121434383
ebirs121434383
HLIrs121434383
Exacrs121434383
Varsomers121434383
Maprs121434383
PheGenIrs121434383
hapmaprs121434383
1000 genomesrs121434383
hgdprs121434383
ensemblrs121434383
gopubmedrs121434383
geneviewrs121434383
scholarrs121434383
googlers121434383
pharmgkbrs121434383
gwascentralrs121434383
openSNPrs121434383
23andMers121434383
23andMe allrs121434383
SNP Nexus

SNPshotrs121434383
SNPdbers121434383
MSV3drs121434383
GWAS Ctlgrs121434383
Max Magnitude0
OMIM608552
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434383(T;T)
Alt rs121434383(T;T)
Reference rs121434383(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.91543193G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002285.3,