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rs398122408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs398122408(-;-)
Make rs398122408(-;CA)
ReferenceGRCh38 38.1/141
Chromosome15
Position91003095
GeneVPS33B
is asnp
is mentioned by
dbSNPrs398122408
dbSNP (classic)rs398122408
ClinGenrs398122408
ebirs398122408
HLIrs398122408
Exacrs398122408
Gnomadrs398122408
Varsomers398122408
LitVarrs398122408
Maprs398122408
PheGenIrs398122408
Biobankrs398122408
1000 genomesrs398122408
hgdprs398122408
ensemblrs398122408
geneviewrs398122408
scholarrs398122408
googlers398122408
pharmgkbrs398122408
gwascentralrs398122408
openSNPrs398122408
23andMers398122408
SNPshotrs398122408
SNPdbers398122408
MSV3drs398122408
GWAS Ctlgrs398122408
Max Magnitude0
ClinVar
Risk rs398122408(-;-)
Alt rs398122408(-;-)
Reference Rs398122408(CA;CA)
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.91546325_91546326delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000074447.4,