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rs138081800

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs138081800(A;G)
Make rs138081800(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position24500105
GeneUPB1
is asnp
is mentioned by
dbSNPrs138081800
ebirs138081800
HLIrs138081800
Exacrs138081800
Varsomers138081800
Maprs138081800
PheGenIrs138081800
hapmaprs138081800
1000 genomesrs138081800
hgdprs138081800
ensemblrs138081800
gopubmedrs138081800
geneviewrs138081800
scholarrs138081800
googlers138081800
pharmgkbrs138081800
gwascentralrs138081800
openSNPrs138081800
23andMers138081800
23andMe allrs138081800
SNP Nexus

SNPshotrs138081800
SNPdbers138081800
MSV3drs138081800
GWAS Ctlgrs138081800
Max Magnitude0
ClinVar
Risk rs138081800(G;G)
Alt rs138081800(G;G)
Reference rs138081800(A;A)
Significance Pathogenic
Disease Deficiency of beta-ureidopropionase
Variation info
Gene UPB1
CLNDBN Deficiency of beta-ureidopropionase
Reversed 0
HGVS NC_000022.10:g.24896073A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004363.3,