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rs121908066

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908066(C;C)
Make rs121908066(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position24500211
GeneUPB1
is asnp
is mentioned by
dbSNPrs121908066
dbSNP (old)rs121908066
ClinGenrs121908066
ebirs121908066
HLIrs121908066
Exacrs121908066
Varsomers121908066
Maprs121908066
PheGenIrs121908066
Biobankrs121908066
1000 genomesrs121908066
hgdprs121908066
ensemblrs121908066
gopubmedrs121908066
geneviewrs121908066
scholarrs121908066
googlers121908066
pharmgkbrs121908066
gwascentralrs121908066
openSNPrs121908066
23andMers121908066
23andMe allrs121908066
SNP Nexus

SNPshotrs121908066
SNPdbers121908066
MSV3drs121908066
GWAS Ctlgrs121908066
GMAF0.0004591
Max Magnitude0
OMIM606673
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908066(A;A) rs121908066(C;C)
Alt rs121908066(A;A) rs121908066(C;C)
Reference Rs121908066(G;G)
Significance Pathogenic
Disease Deficiency of beta-ureidopropionase
Variation info
Gene UPB1
CLNDBN Deficiency of beta-ureidopropionase
Reversed 0
HGVS NC_000022.10:g.24896179G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004366.3,