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rs66539573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs66539573(A;G)
Make rs66539573(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38381393
GeneOTC
is asnp
is mentioned by
dbSNPrs66539573
ebirs66539573
HLIrs66539573
Exacrs66539573
Varsomers66539573
Maprs66539573
PheGenIrs66539573
hapmaprs66539573
1000 genomesrs66539573
hgdprs66539573
ensemblrs66539573
gopubmedrs66539573
geneviewrs66539573
scholarrs66539573
googlers66539573
pharmgkbrs66539573
gwascentralrs66539573
openSNPrs66539573
23andMers66539573
23andMe allrs66539573
SNP Nexus

SNPshotrs66539573
SNPdbers66539573
MSV3drs66539573
GWAS Ctlgrs66539573
Max Magnitude0
ClinVar
Risk rs66539573(G,T;G,T)
Alt rs66539573(G,T;G,T)
Reference rs66539573(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38240646A>G; NC_000023.10:g.38240646A>T
CLNSRC ClinVar
CLNACC RCV000083404.1, RCV000083405.1,


[PMID 9590019] [Ornithine transcarbamylase deficiency (OTCD)].


[PMID 8019569] The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism.