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rs67839036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67839036(C;C)
Make rs67839036(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38408741
GeneOTC
is asnp
is mentioned by
dbSNPrs67839036
ebirs67839036
HLIrs67839036
Exacrs67839036
Varsomers67839036
Maprs67839036
PheGenIrs67839036
hapmaprs67839036
1000 genomesrs67839036
hgdprs67839036
ensemblrs67839036
gopubmedrs67839036
geneviewrs67839036
scholarrs67839036
googlers67839036
pharmgkbrs67839036
gwascentralrs67839036
openSNPrs67839036
23andMers67839036
23andMe allrs67839036
SNP Nexus

SNPshotrs67839036
SNPdbers67839036
MSV3drs67839036
GWAS Ctlgrs67839036
Max Magnitude0
ClinVar
Risk rs67839036(A;A)
Alt rs67839036(A;A)
Reference rs67839036(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38267994G>A
CLNSRC ClinVar
CLNACC RCV000083532.1,



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


[PMID 9452024] Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.


[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.