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rs67367843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs67367843(C;C)
Make rs67367843(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401430
GeneOTC
is asnp
is mentioned by
dbSNPrs67367843
ebirs67367843
HLIrs67367843
Exacrs67367843
Varsomers67367843
Maprs67367843
PheGenIrs67367843
hapmaprs67367843
1000 genomesrs67367843
hgdprs67367843
ensemblrs67367843
gopubmedrs67367843
geneviewrs67367843
scholarrs67367843
googlers67367843
pharmgkbrs67367843
gwascentralrs67367843
openSNPrs67367843
23andMers67367843
23andMe allrs67367843
SNP Nexus

SNPshotrs67367843
SNPdbers67367843
MSV3drs67367843
GWAS Ctlgrs67367843
Max Magnitude0
ClinVar
Risk rs67367843(A,C;A,C)
Alt rs67367843(A,C;A,C)
Reference rs67367843(T;T)
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.38260683T>A; NC_000023.10:g.38260683T>C
CLNSRC HGMD
CLNACC RCV000083481.1, RCV000079085.4, RCV000178788.1,



[PMID 7474892] Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.


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