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rs137852796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852796(C;C)
Make rs137852796(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position126510712
GeneUROC1
is asnp
is mentioned by
dbSNPrs137852796
ebirs137852796
HLIrs137852796
Exacrs137852796
Varsomers137852796
Maprs137852796
PheGenIrs137852796
hapmaprs137852796
1000 genomesrs137852796
hgdprs137852796
ensemblrs137852796
gopubmedrs137852796
geneviewrs137852796
scholarrs137852796
googlers137852796
pharmgkbrs137852796
gwascentralrs137852796
openSNPrs137852796
23andMers137852796
23andMe allrs137852796
SNP Nexus

SNPshotrs137852796
SNPdbers137852796
MSV3drs137852796
GWAS Ctlgrs137852796
Max Magnitude0
OMIM613012
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852796(C;C)
Alt rs137852796(C;C)
Reference rs137852796(T;T)
Significance Pathogenic
Disease Urocanate hydratase deficiency
Variation info
Gene UROC1
CLNDBN Urocanate hydratase deficiency
Reversed 1
HGVS NC_000003.11:g.126229555A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000435.4,