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rs68033093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs68033093(A;G)
Make rs68033093(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401412
GeneOTC
is asnp
is mentioned by
dbSNPrs68033093
ebirs68033093
HLIrs68033093
Exacrs68033093
Varsomers68033093
Maprs68033093
PheGenIrs68033093
hapmaprs68033093
1000 genomesrs68033093
hgdprs68033093
ensemblrs68033093
gopubmedrs68033093
geneviewrs68033093
scholarrs68033093
googlers68033093
pharmgkbrs68033093
gwascentralrs68033093
openSNPrs68033093
23andMers68033093
23andMe allrs68033093
SNP Nexus

SNPshotrs68033093
SNPdbers68033093
MSV3drs68033093
GWAS Ctlgrs68033093
Max Magnitude0
ClinVar
Risk rs68033093(G,T;G,T)
Alt rs68033093(G,T;G,T)
Reference rs68033093(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38260665A>G; NC_000023.10:g.38260665A>T
CLNSRC ClinVar
CLNACC RCV000083472.1, RCV000083473.1,



[PMID 11117428] Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.


[PMID 9266388] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.