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rs66550389

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66550389(G;T)
Make rs66550389(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38369854
GeneOTC
is asnp
is mentioned by
dbSNPrs66550389
ebirs66550389
HLIrs66550389
Exacrs66550389
Varsomers66550389
Maprs66550389
PheGenIrs66550389
hapmaprs66550389
1000 genomesrs66550389
hgdprs66550389
ensemblrs66550389
gopubmedrs66550389
geneviewrs66550389
scholarrs66550389
googlers66550389
pharmgkbrs66550389
gwascentralrs66550389
openSNPrs66550389
23andMers66550389
23andMe allrs66550389
SNP Nexus

SNPshotrs66550389
SNPdbers66550389
MSV3drs66550389
GWAS Ctlgrs66550389
Max Magnitude0
ClinVar
Risk rs66550389(A,C,T;A,C,T)
Alt rs66550389(A,C,T;A,C,T)
Reference rs66550389(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38229107G>A; NC_000023.10:g.38229107G>C; NC_000023.10:g.38229107G>T
CLNSRC ClinVar
CLNACC RCV000083384.2, RCV000083385.1, RCV000083386.1,



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


[PMID 1671317OA-icon.png] Improved molecular diagnostics for ornithine transcarbamylase deficiency.