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rs34035085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34035085(A;A)
Make rs34035085(A;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position24500256
GeneUPB1
is asnp
is mentioned by
dbSNPrs34035085
dbSNP (classic)rs34035085
ClinGenrs34035085
ebirs34035085
HLIrs34035085
Exacrs34035085
Gnomadrs34035085
Varsomers34035085
LitVarrs34035085
Maprs34035085
PheGenIrs34035085
Biobankrs34035085
1000 genomesrs34035085
hgdprs34035085
ensemblrs34035085
geneviewrs34035085
scholarrs34035085
googlers34035085
pharmgkbrs34035085
gwascentralrs34035085
openSNPrs34035085
23andMers34035085
SNPshotrs34035085
SNPdbers34035085
MSV3drs34035085
GWAS Ctlgrs34035085
GMAF0.002755
Max Magnitude0
OMIM606673
Desc
Variant0003
Relatedalso


ClinVar
Risk rs34035085(A;A) rs34035085(T;T)
Alt rs34035085(A;A) rs34035085(T;T)
Reference Rs34035085(C;C)
Significance Pathogenic
Disease Deficiency of beta-ureidopropionase not provided not specified
Variation info
Gene UPB1
CLNDBN Deficiency of beta-ureidopropionase not provided not specified
Reversed 0
HGVS NC_000022.10:g.24896224C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004365.3, RCV000086541.1, RCV000455167.1,