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rs66867430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs66867430(A;C)
Make rs66867430(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401391
GeneOTC
is asnp
is mentioned by
dbSNPrs66867430
ebirs66867430
HLIrs66867430
Exacrs66867430
Varsomers66867430
Maprs66867430
PheGenIrs66867430
hapmaprs66867430
1000 genomesrs66867430
hgdprs66867430
ensemblrs66867430
gopubmedrs66867430
geneviewrs66867430
scholarrs66867430
googlers66867430
pharmgkbrs66867430
gwascentralrs66867430
openSNPrs66867430
23andMers66867430
23andMe allrs66867430
SNP Nexus

SNPshotrs66867430
SNPdbers66867430
MSV3drs66867430
GWAS Ctlgrs66867430
Max Magnitude0
ClinVar
Risk rs66867430(C,G;C,G)
Alt rs66867430(C,G;C,G)
Reference rs66867430(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38260644A>C; NC_000023.10:g.38260644A>G
CLNSRC ClinVar
CLNACC RCV000083464.1, RCV000083465.1,



[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.


[PMID 9266387] Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.