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rs66469337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs66469337(C;C)
Make rs66469337(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38421050
GeneOTC
is asnp
is mentioned by
dbSNPrs66469337
ebirs66469337
HLIrs66469337
Exacrs66469337
Varsomers66469337
Maprs66469337
PheGenIrs66469337
hapmaprs66469337
1000 genomesrs66469337
hgdprs66469337
ensemblrs66469337
gopubmedrs66469337
geneviewrs66469337
scholarrs66469337
googlers66469337
pharmgkbrs66469337
gwascentralrs66469337
openSNPrs66469337
23andMers66469337
23andMe allrs66469337
SNP Nexus

SNPshotrs66469337
SNPdbers66469337
MSV3drs66469337
GWAS Ctlgrs66469337
Max Magnitude0
OMIM300461
Desc
Variant0024
Relatedalso
ClinVar
Risk rs66469337(C,G;C,G)
Alt rs66469337(C,G;C,G)
Reference rs66469337(T;T)
Significance Pathogenic
Disease not provided Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN not provided Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38280303T>C; NC_000023.10:g.38280303T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000083324.1, RCV000011756.9, RCV000083325.1,


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


[PMID 1480464] Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.