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rs67016166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs67016166(C;C)
Make rs67016166(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401331
GeneOTC
is asnp
is mentioned by
dbSNPrs67016166
ebirs67016166
HLIrs67016166
Exacrs67016166
Varsomers67016166
Maprs67016166
PheGenIrs67016166
hapmaprs67016166
1000 genomesrs67016166
hgdprs67016166
ensemblrs67016166
gopubmedrs67016166
geneviewrs67016166
scholarrs67016166
googlers67016166
pharmgkbrs67016166
gwascentralrs67016166
openSNPrs67016166
23andMers67016166
23andMe allrs67016166
SNP Nexus

SNPshotrs67016166
SNPdbers67016166
MSV3drs67016166
GWAS Ctlgrs67016166
Max Magnitude0
ClinVar
Risk rs67016166(C,G;C,G)
Alt rs67016166(C,G;C,G)
Reference rs67016166(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38260584T>C; NC_000023.10:g.38260584T>G
CLNSRC ClinVar
CLNACC RCV000083439.1, RCV000083440.1,



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


[PMID 10946359] Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.