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rs137852795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852795(C;T)
Make rs137852795(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position126498141
GeneUROC1
is asnp
is mentioned by
dbSNPrs137852795
ebirs137852795
HLIrs137852795
Exacrs137852795
Varsomers137852795
Maprs137852795
PheGenIrs137852795
hapmaprs137852795
1000 genomesrs137852795
hgdprs137852795
ensemblrs137852795
gopubmedrs137852795
geneviewrs137852795
scholarrs137852795
googlers137852795
pharmgkbrs137852795
gwascentralrs137852795
openSNPrs137852795
23andMers137852795
23andMe allrs137852795
SNP Nexus

SNPshotrs137852795
SNPdbers137852795
MSV3drs137852795
GWAS Ctlgrs137852795
Max Magnitude0
OMIM613012
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852795(T;T)
Alt rs137852795(T;T)
Reference rs137852795(C;C)
Significance Pathogenic
Disease Urocanate hydratase deficiency
Variation info
Gene UROC1
CLNDBN Urocanate hydratase deficiency
Reversed 1
HGVS NC_000003.11:g.126216984G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000434.3,