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rs121917891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917891(C;C)
Make rs121917891(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position124743926
GeneUMPS
is asnp
is mentioned by
dbSNPrs121917891
ebirs121917891
HLIrs121917891
Exacrs121917891
Varsomers121917891
Maprs121917891
PheGenIrs121917891
hapmaprs121917891
1000 genomesrs121917891
hgdprs121917891
ensemblrs121917891
gopubmedrs121917891
geneviewrs121917891
scholarrs121917891
googlers121917891
pharmgkbrs121917891
gwascentralrs121917891
openSNPrs121917891
23andMers121917891
23andMe allrs121917891
SNP Nexus

SNPshotrs121917891
SNPdbers121917891
MSV3drs121917891
GWAS Ctlgrs121917891
Max Magnitude0
OMIM258900
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917891(C;C)
Alt rs121917891(C;C)
Reference rs121917891(G;G)
Significance Pathogenic
Disease Orotic aciduria
Variation info
Gene UMPS
CLNDBN Orotic aciduria
Reversed 0
HGVS NC_000003.11:g.124462773G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012681.2,