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rs794726658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726658(A;A)
Make rs794726658(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position91006949
GeneVPS33B
is asnp
is mentioned by
dbSNPrs794726658
dbSNP (classic)rs794726658
ClinGenrs794726658
ebirs794726658
HLIrs794726658
Exacrs794726658
Gnomadrs794726658
Varsomers794726658
LitVarrs794726658
Maprs794726658
PheGenIrs794726658
Biobankrs794726658
1000 genomesrs794726658
hgdprs794726658
ensemblrs794726658
geneviewrs794726658
scholarrs794726658
googlers794726658
pharmgkbrs794726658
gwascentralrs794726658
openSNPrs794726658
23andMers794726658
SNPshotrs794726658
SNPdbers794726658
MSV3drs794726658
GWAS Ctlgrs794726658
Max Magnitude0
ClinVar
Risk rs794726658(A;A)
Alt rs794726658(A;A)
Reference Rs794726658(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.91550179C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002288.7,