Have questions? Visit https://www.reddit.com/r/SNPedia

rs66512766

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66512766(A;A)
Make rs66512766(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38409026
GeneOTC
is asnp
is mentioned by
dbSNPrs66512766
ebirs66512766
HLIrs66512766
Exacrs66512766
Varsomers66512766
Maprs66512766
PheGenIrs66512766
hapmaprs66512766
1000 genomesrs66512766
hgdprs66512766
ensemblrs66512766
gopubmedrs66512766
geneviewrs66512766
scholarrs66512766
googlers66512766
pharmgkbrs66512766
gwascentralrs66512766
openSNPrs66512766
23andMers66512766
23andMe allrs66512766
SNP Nexus

SNPshotrs66512766
SNPdbers66512766
MSV3drs66512766
GWAS Ctlgrs66512766
Max Magnitude0
ClinVar
Risk rs66512766(A,T;A,T)
Alt rs66512766(A,T;A,T)
Reference rs66512766(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38268279G>A; NC_000023.10:g.38268279G>T
CLNSRC ClinVar
CLNACC RCV000083590.1, RCV000083591.1,


[PMID 9686344] The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.


[PMID 8566955] Identification of four novel splice site mutations in the ornithine transcarbamylase gene.