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rs121434385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434385(C;C)
Make rs121434385(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position91022161
GeneAC068831.10, VPS33B
is asnp
is mentioned by
dbSNPrs121434385
ebirs121434385
HLIrs121434385
Exacrs121434385
Varsomers121434385
Maprs121434385
PheGenIrs121434385
hapmaprs121434385
1000 genomesrs121434385
hgdprs121434385
ensemblrs121434385
gopubmedrs121434385
geneviewrs121434385
scholarrs121434385
googlers121434385
pharmgkbrs121434385
gwascentralrs121434385
openSNPrs121434385
23andMers121434385
23andMe allrs121434385
SNP Nexus

SNPshotrs121434385
SNPdbers121434385
MSV3drs121434385
GWAS Ctlgrs121434385
Max Magnitude0
OMIM608552
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434385(C;C)
Alt rs121434385(C;C)
Reference rs121434385(T;T)
Significance Pathogenic
Disease Arthrogryposis renal dysfunction cholestasis syndrome
Variation info
Gene LOC101926911 VPS33B
CLNDBN Arthrogryposis renal dysfunction cholestasis syndrome
Reversed 1
HGVS NC_000015.9:g.91565391A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002287.5,