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rs67939655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs67939655(A;C)
Make rs67939655(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38367353
GeneOTC
is asnp
is mentioned by
dbSNPrs67939655
ebirs67939655
HLIrs67939655
Exacrs67939655
Varsomers67939655
Maprs67939655
PheGenIrs67939655
hapmaprs67939655
1000 genomesrs67939655
hgdprs67939655
ensemblrs67939655
gopubmedrs67939655
geneviewrs67939655
scholarrs67939655
googlers67939655
pharmgkbrs67939655
gwascentralrs67939655
openSNPrs67939655
23andMers67939655
23andMe allrs67939655
SNP Nexus

SNPshotrs67939655
SNPdbers67939655
MSV3drs67939655
GWAS Ctlgrs67939655
Max Magnitude0
ClinVar
Risk rs67939655(C,T;C,T)
Alt rs67939655(C,T;C,T)
Reference rs67939655(A;A)
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.38226606A>C; NC_000023.10:g.38226606A>T
CLNSRC ClinVar University of Washington
CLNACC RCV000083340.1, RCV000148720.1, RCV000083341.1,



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


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