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rs398122407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122407(C;C)
Make rs398122407(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position91004872
GeneVPS33B
is asnp
is mentioned by
dbSNPrs398122407
ebirs398122407
HLIrs398122407
Exacrs398122407
Varsomers398122407
Maprs398122407
PheGenIrs398122407
hapmaprs398122407
1000 genomesrs398122407
hgdprs398122407
ensemblrs398122407
gopubmedrs398122407
geneviewrs398122407
scholarrs398122407
googlers398122407
pharmgkbrs398122407
gwascentralrs398122407
openSNPrs398122407
23andMers398122407
23andMe allrs398122407
SNP Nexus

SNPshotrs398122407
SNPdbers398122407
MSV3drs398122407
GWAS Ctlgrs398122407
Max Magnitude0
ClinVar
Risk rs398122407(C;C)
Alt rs398122407(C;C)
Reference rs398122407(G;G)
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.91548102C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000074446.5,