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rs68058881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs68058881(A;A)
Make rs68058881(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38369878
GeneOTC
is asnp
is mentioned by
dbSNPrs68058881
ebirs68058881
HLIrs68058881
Exacrs68058881
Varsomers68058881
Maprs68058881
PheGenIrs68058881
hapmaprs68058881
1000 genomesrs68058881
hgdprs68058881
ensemblrs68058881
gopubmedrs68058881
geneviewrs68058881
scholarrs68058881
googlers68058881
pharmgkbrs68058881
gwascentralrs68058881
openSNPrs68058881
23andMers68058881
23andMe allrs68058881
SNP Nexus

SNPshotrs68058881
SNPdbers68058881
MSV3drs68058881
GWAS Ctlgrs68058881
Max Magnitude0
ClinVar
Risk rs68058881(A,T;A,T)
Alt rs68058881(A,T;A,T)
Reference rs68058881(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38229131G>A; NC_000023.10:g.38229131G>T
CLNSRC ClinVar
CLNACC RCV000083392.1, RCV000083393.1,



[PMID 9427144] Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.


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