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rs67418243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs67418243(C;G)
Make rs67418243(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38369853
GeneOTC
is asnp
is mentioned by
dbSNPrs67418243
ebirs67418243
HLIrs67418243
Exacrs67418243
Varsomers67418243
Maprs67418243
PheGenIrs67418243
hapmaprs67418243
1000 genomesrs67418243
hgdprs67418243
ensemblrs67418243
gopubmedrs67418243
geneviewrs67418243
scholarrs67418243
googlers67418243
pharmgkbrs67418243
gwascentralrs67418243
openSNPrs67418243
23andMers67418243
23andMe allrs67418243
SNP Nexus

SNPshotrs67418243
SNPdbers67418243
MSV3drs67418243
GWAS Ctlgrs67418243
Max Magnitude0
ClinVar
Risk rs67418243(G,T;G,T)
Alt rs67418243(G,T;G,T)
Reference rs67418243(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38229106C>G; NC_000023.10:g.38229106C>T
CLNSRC ClinVar
CLNACC RCV000083382.1, RCV000083383.1,


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


[PMID 1671317OA-icon.png] Improved molecular diagnostics for ornithine transcarbamylase deficiency.